ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.1372_1375dup (p.Asn459fs)

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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 RCV005043817 SCV005677708 likely pathogenic Oculocutaneous albinism type 3; MELANESIAN BLOND HAIR 2024-04-06 criteria provided, single submitter clinical testing

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