ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2583C>T (p.Ala861=)

gnomAD frequency: 0.00007  dbSNP: rs565717791
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631251 SCV000752276 benign Wilson disease 2024-02-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000631251 SCV004845501 likely benign Wilson disease 2024-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025397 SCV005021746 likely benign Inborn genetic diseases 2024-02-18 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.

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