ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1401T>G (p.Pro467=)

dbSNP: rs529527733
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000976137 SCV001124034 likely benign Wilson disease 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002391017 SCV002702425 likely benign Inborn genetic diseases 2022-07-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV000976137 SCV004816568 likely benign Wilson disease 2023-12-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000976137 SCV001456188 uncertain significance Wilson disease 2020-04-15 no assertion criteria provided clinical testing

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