ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2328T>C (p.Ala776=)

gnomAD frequency: 0.47440  dbSNP: rs1800419
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176255 SCV000227880 benign not specified 2015-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000176255 SCV000303434 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305128 SCV000390130 benign Tyrosinase-positive oculocutaneous albinism 2018-01-12 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 RCV001522990 SCV001732636 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000305128 SCV002029272 benign Tyrosinase-positive oculocutaneous albinism 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500486 SCV002809999 benign Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2022-03-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522990 SCV005297450 benign not provided criteria provided, single submitter not provided

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