ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.316C>T (p.Gln106Ter)

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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 RCV004574415 SCV005053792 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2023-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003768 SCV005630605 likely pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-02-14 criteria provided, single submitter clinical testing

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