ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2679C>T (p.Asp893=)

gnomAD frequency: 0.00001  dbSNP: rs755739707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001437749 SCV001640613 likely benign Wilson disease 2023-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434241 SCV002744780 likely benign Inborn genetic diseases 2019-07-12 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.
Fulgent Genetics, Fulgent Genetics RCV001437749 SCV002798110 likely benign Wilson disease 2022-03-29 criteria provided, single submitter clinical testing

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