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: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000941191 SCV001087071 likely benign Wilson disease 2024-12-16 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
All of Us Research Program, National Institutes of Health RCV000941191 SCV004819208 likely benign Wilson disease 2023-11-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002292595 SCV005215662 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000941191 SCV001456185 uncertain significance Wilson disease 2020-02-13 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003960543 SCV004778249 likely benign ATP7B-related disorder 2019-02-28 no assertion criteria provided 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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