ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1686C>T (p.Ser562=)

gnomAD frequency: 0.00003  dbSNP: rs138962570
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000941191 SCV001087071 likely benign Wilson disease 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002292595 SCV002585449 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing ATP7B: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003960543 SCV004778249 likely benign ATP7B-related condition 2019-02-28 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).
All of Us Research Program, National Institutes of Health RCV000941191 SCV004819208 likely benign Wilson disease 2023-11-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000941191 SCV001456185 uncertain significance Wilson disease 2020-02-13 no assertion criteria provided clinical testing

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