ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1405G>T (p.Glu469Ter)

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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 RCV005004744 SCV005631395 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-06-04 criteria provided, single submitter clinical testing

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