ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1173G>A (p.Ser391=)

gnomAD frequency: 0.00001  dbSNP: rs200431213
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000931741 SCV001077412 likely benign Wilson disease 2023-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983281 SCV004796632 likely benign ATP7B-related condition 2022-01-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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