ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1560C>A (p.Leu520=)

gnomAD frequency: 0.00176  dbSNP: rs140932222
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001116705 SCV001274826 uncertain significance Tyrosinase-positive oculocutaneous albinism 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001519425 SCV001728294 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001116705 SCV002041274 likely benign Tyrosinase-positive oculocutaneous albinism 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001519425 SCV004131466 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing OCA2: BP4, BP7

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