ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.540C>T (p.Asn180=)

dbSNP: rs537892210
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000946227 SCV001092337 benign Wilson disease 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346150 SCV002650500 likely benign Inborn genetic diseases 2020-12-30 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 RCV000946227 SCV004816413 likely benign Wilson disease 2023-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000946227 SCV002087901 likely benign Wilson disease 2020-04-15 no assertion criteria provided clinical testing

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