ClinVar Miner

Submissions for variant NM_020223.4(FAM20C):c.646G>A (p.Gly216Arg)

gnomAD frequency: 0.00499  dbSNP: rs61734970
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175916 SCV000227490 benign not specified 2015-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000957599 SCV001104411 benign not provided 2025-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000957599 SCV004158687 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing FAM20C: BS2
PreventionGenetics, part of Exact Sciences RCV003907577 SCV004729906 likely benign FAM20C-related disorder 2019-05-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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