ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2160A>G (p.Lys720=)

gnomAD frequency: 0.00001  dbSNP: rs753016869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002212773 SCV002360892 likely benign Wilson disease 2024-09-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002212773 SCV004830962 likely benign Wilson disease 2023-08-08 criteria provided, single submitter clinical testing

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