ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=)

gnomAD frequency: 0.00014  dbSNP: rs369620062
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589499 SCV000694434 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV001083662 SCV001013368 likely benign Wilson disease 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000871678 SCV001156178 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing ATP7B: BP4, BP7
Ambry Genetics RCV003159989 SCV003911077 likely benign Inborn genetic diseases 2023-01-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Natera, Inc. RCV001083662 SCV001456172 uncertain significance Wilson disease 2020-04-15 no assertion criteria provided clinical testing

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