Genetic Counselling Resources

This page lists resources and recommendations on genetic counseling and the interpretation of specialized genetic and biochemical tests.


Cardioboost - In silico tool for cardiomyopathies and arrhythmias

Morales et al., 2020 - Criteria for dilated cardiomyopathies

Kelly et al., 2018 - ACMG criteria adapted for MYH7 gene by Clingen expert panel

General criteria for classifying variants

Pejaver et al., 2022 - Clingen Recommendation on PP3/BP4 criteria

Houge et al., 2022 - ABC variant classification system

Clingen, 2021 - Clingen recommendation on PS2 and PM6 criteria

Clingen, 2019 -Clingen recommendation on PM3 criterion

Biesecker et al., 2018 - Clingen Recommendation on Removal of PP5 and BP6 criteria.

Tayoun et al., 2018 - Clingen recommendation on PVS1 criterion.

Ghosh et al., 2018 - Clingen recommendation on BA1 criterion.

Nykamp et al., 2017 - Sherloc criteria

Richards et al., 2015 - ACMG/AMP criteria

Genetic testing

Association for Clinical Genomic Science

ACMG, 2022 - ACMG recommendations on detection of structural variants by next-generation sequencing.

Deans et al., 2022 - ESHG Guidelines on Genomic Test Reports

Miller, 2021 - ACMG recommendations on secondary findings.

Gaudio, 2020 - ACMG recommendations for diagnostic testing for uniparental disomy

SBGM, 2020 - SBGM statement on genetic tests

Bush, 2018 - ACMG recommendations for pre-test counseling for teens and older children

Genetic variant databases

Database of Genomic Variants


Clinvitae  - Invitae variant database

Gnomad - Population database. Helps in assessing the frequency of the variant in a "normal" population

Clinvar - Public variant database with independently submitted laboratory interpretations of pathogenicity

Interpretation of biochemical tests - Metabolome data listing conditions under which each metabolite is expressed

IEM Base - Allows the search for inborn errors of metabolism described by metabolites or signs and symptoms

Prenatal genetic counseling

Gregg, 2021 - ACMG recommendations for screening for autosomal recessive and X-linked conditions

Grody, 2013 - ACMG Recommendations for Assessing Prenatal/Preconception Carrier Status

Prior, 2008 - ACMG recommendations for assessing carrier status for spinal muscular atrophy

Resources for variant interpretation

Varsome - Facilitates classification by ACMG criteria. It accepts .vcf and .fastq files only in the paid version.

Franklin - Facilitates classification by ACMG criteria. It accepts both variants and .vcf files.

Genetic Variant Interpretation Tool - ACMG criteria checklist

Mutalyzer - Allows you to check the variant nomenclature

Uniprot - Allows evaluation of the domain in which the variant occurs

ProteinPaint - Facilitates visualization of hotspots in the gene


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