ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.820-2A>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 RCV004573806 SCV005054559 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-03-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006441 SCV005631350 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-02-06 criteria provided, single submitter clinical testing

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