ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1007C>T (p.Ala336Val)

gnomAD frequency: 0.00755  dbSNP: rs34010619
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241894 SCV000303412 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000891116 SCV001034906 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001116803 SCV001274935 benign Tyrosinase-positive oculocutaneous albinism 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV000891116 SCV005213810 likely benign not provided criteria provided, single submitter not provided

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