ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1117-17T>C

gnomAD frequency: 0.00078  dbSNP: rs200081580
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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 RCV000242468 SCV000303418 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001341989 SCV001535888 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001341989 SCV001988402 uncertain significance not provided 2019-04-24 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Nucleotide substitution has no predicted effect on splicing and is not conserved across species; This variant is associated with the following publications: (PMID: 29345414)
Genome-Nilou Lab RCV001797695 SCV002040036 uncertain significance Tyrosinase-positive oculocutaneous albinism 2021-11-07 criteria provided, single submitter clinical testing

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