ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3756C>T (p.Val1252=)

dbSNP: rs1395442643
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001279622 SCV001680023 likely benign Wilson disease 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279622 SCV001466732 uncertain significance Wilson disease 2020-08-13 no assertion criteria provided clinical testing

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