ClinVar Miner

Submissions for variant NM_001004334.4(GPR179):c.3441C>T (p.Ser1147=)

gnomAD frequency: 0.00054  dbSNP: rs377711366
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625278 SCV000744571 likely benign Congenital stationary night blindness 1E 2017-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060698 SCV002432854 benign not provided 2025-01-22 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701129 SCV001920856 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003917989 SCV004731509 likely benign GPR179-related disorder 2019-11-14 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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