ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3174T>C (p.Ala1058=)

dbSNP: rs2138950443
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001450454 SCV001654063 likely benign Wilson disease 2019-12-13 criteria provided, single submitter clinical testing

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