ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.913C>T (p.Arg305Trp)

gnomAD frequency: 0.07659  dbSNP: rs1800401
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180482 SCV000232935 benign not specified 2014-09-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000180482 SCV000303437 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312067 SCV000390153 benign Tyrosinase-positive oculocutaneous albinism 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab RCV000312067 SCV001623035 benign Tyrosinase-positive oculocutaneous albinism 2021-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522992 SCV001732638 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001522992 SCV001883998 benign not provided 2018-08-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14709592, 27734839, 28451379, 12163334, 21541274, 23824587)
Fulgent Genetics, Fulgent Genetics RCV002490287 SCV002798986 benign Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2022-05-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522992 SCV005290390 benign not provided criteria provided, single submitter not provided
OMIM RCV000001013 SCV000021163 affects SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2005-08-01 no assertion criteria provided literature only

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