ClinVar Miner

Submissions for variant NM_020223.4(FAM20C):c.1299G>A (p.Pro433=)

gnomAD frequency: 0.00021  dbSNP: rs568534039
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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) RCV000728904 SCV000856527 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000728904 SCV002348689 likely benign not provided 2024-05-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000728904 SCV004158689 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing FAM20C: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003980368 SCV004791486 likely benign FAM20C-related disorder 2023-12-20 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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