ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.988C>T (p.Gln330Ter)

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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 RCV005005728 SCV005630592 likely pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-03-06 criteria provided, single submitter clinical testing

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