ClinVar Miner

Submissions for variant NM_020223.4(FAM20C):c.1680C>T (p.Cys560=)

gnomAD frequency: 0.00044  dbSNP: rs371584776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521646 SCV001731022 benign not provided 2024-10-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003921168 SCV004736793 likely benign FAM20C-related disorder 2019-03-26 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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