ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1427_1430dup (p.Trp477fs)

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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 RCV003464761 SCV004207579 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-09-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003645 SCV005631396 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-06-14 criteria provided, single submitter clinical testing

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