ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2432G>A (p.Arg811Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005005720 SCV005630541 likely pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-04-11 criteria provided, single submitter clinical testing

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