ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1392dup (p.Lys465Ter)

dbSNP: rs1555100853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598065 SCV000702758 likely pathogenic not provided 2016-10-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497252 SCV002811034 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2022-05-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568312 SCV005055648 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-02-08 criteria provided, single submitter clinical testing

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