ClinVar Miner

Submissions for variant NM_001004334.4(GPR179):c.7014G>A (p.Ser2338=)

gnomAD frequency: 0.00071  dbSNP: rs184147344
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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 RCV002079858 SCV002322145 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002079858 SCV005247387 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003911163 SCV004725890 likely benign GPR179-related disorder 2019-10-22 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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