ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2625G>A (p.Gly875=)

gnomAD frequency: 0.00001  dbSNP: rs1052834834
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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 RCV001460935 SCV001664818 likely benign Wilson disease 2024-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002439092 SCV002745670 likely benign Inborn genetic diseases 2022-08-07 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 RCV001460935 SCV004845496 likely benign Wilson disease 2024-07-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005237836 SCV005883130 likely benign not specified 2024-12-06 criteria provided, single submitter clinical testing

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