ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln)

gnomAD frequency: 0.04917  dbSNP: rs1800407
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252408 SCV000303420 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000252408 SCV000335482 benign not specified 2015-09-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397427 SCV000390149 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521859 SCV001731277 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521859 SCV005290384 benign not provided criteria provided, single submitter not provided
OMIM RCV000001014 SCV000021164 affects SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2008-02-01 no assertion criteria provided literature only

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