ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1036+13T>A

dbSNP: rs1377064834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002176460 SCV002476466 likely benign not provided 2024-03-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505851 SCV002813726 likely benign Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2022-05-24 criteria provided, single submitter clinical testing

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