ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.45G>A (p.Pro15=)

gnomAD frequency: 0.00028  dbSNP: rs202091837
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175573 SCV000227082 uncertain significance not provided 2015-02-12 criteria provided, single submitter clinical testing
Invitae RCV000175573 SCV001068094 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001797662 SCV002040147 likely benign Tyrosinase-positive oculocutaneous albinism 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000175573 SCV004131472 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing OCA2: BP4, BP7

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