ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu)

dbSNP: rs868238523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133584 SCV003814234 uncertain significance not provided 2021-04-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465673 SCV004209035 pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-03-27 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV000755090 SCV000882908 likely pathogenic Nonsyndromic Oculocutaneous Albinism 2017-03-07 no assertion criteria provided research

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