ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.48C>T (p.Ser16=)

gnomAD frequency: 0.00006  dbSNP: rs148710429
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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 RCV002117466 SCV002404567 likely benign not provided 2024-06-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494251 SCV002802453 likely benign Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2022-02-14 criteria provided, single submitter clinical testing

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