ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.106C>T (p.Arg36Cys)

gnomAD frequency: 0.00019  dbSNP: rs148066812
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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 RCV001119793 SCV001278236 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.
GeneDx RCV001760086 SCV001991259 uncertain significance not provided 2019-06-20 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23824587)
Genome-Nilou Lab RCV001119793 SCV002040531 uncertain significance Tyrosinase-positive oculocutaneous albinism 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001760086 SCV002365952 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing

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