ClinVar Miner

Submissions for variant NM_020223.4(FAM20C):c.1461G>A (p.Ser487=)

dbSNP: rs373079378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002148270 SCV002428915 benign not provided 2024-10-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002148270 SCV004158690 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing FAM20C: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003933501 SCV004747143 likely benign FAM20C-related disorder 2020-01-29 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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