ClinVar Miner

Submissions for variant NM_001375567.1(FOCAD):c.2336C>T (p.Thr779Ile)

gnomAD frequency: 0.00124  dbSNP: rs147376982
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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 RCV000973187 SCV001120928 likely benign not provided 2025-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000973187 SCV005224097 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003936162 SCV004765251 likely benign FOCAD-related disorder 2020-10-26 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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