ClinVar Miner

Submissions for variant NM_001385125.1(OPN1SW):c.357A>C (p.Gly119=)

gnomAD frequency: 0.29989  dbSNP: rs1799922
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519920 SCV001728884 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788568 SCV002029309 benign Blue color blindness 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519920 SCV005267166 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003983949 SCV004796549 benign OPN1SW-related disorder 2019-10-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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