ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2374C>T (p.Leu792=)

gnomAD frequency: 0.00002  dbSNP: rs757244072
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001279631 SCV001705424 likely benign Wilson disease 2024-09-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001279631 SCV004845528 likely benign Wilson disease 2024-01-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279631 SCV001466742 uncertain significance Wilson disease 2020-04-15 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004751948 SCV005367278 likely benign ATP7B-related disorder 2024-03-11 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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