ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.731G>A (p.Cys244Tyr)

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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 RCV005004739 SCV005631345 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-01-12 criteria provided, single submitter clinical testing

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