ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2244+2T>G

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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 RCV003471629 SCV004209018 pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2023-08-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012964 SCV005630548 pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-04-02 criteria provided, single submitter clinical testing

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