ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.142C>T (p.Leu48=)

dbSNP: rs1593792416
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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 RCV001418468 SCV001620697 likely benign Wilson disease 2018-09-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001418468 SCV004826920 likely benign Wilson disease 2023-04-28 criteria provided, single submitter clinical testing

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