ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)

gnomAD frequency: 0.00001  dbSNP: rs767092342
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003465687 SCV004209025 pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2023-07-07 criteria provided, single submitter clinical testing
Center of Medical Genetics, Central South University RCV000851375 SCV000902466 likely pathogenic Tyrosinase-positive oculocutaneous albinism 2019-03-26 no assertion criteria provided clinical testing

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