ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1357C>T (p.Gln453Ter)

dbSNP: rs62645924
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003467005 SCV004207586 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-08-16 criteria provided, single submitter clinical testing
Retina International RCV000085922 SCV000118065 not provided not provided no assertion provided not provided

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