ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2298G>A (p.Thr766=)

gnomAD frequency: 0.00003  dbSNP: rs759444110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001426973 SCV001629643 likely benign Wilson disease 2024-03-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001426973 SCV002808159 likely benign Wilson disease 2022-02-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001426973 SCV004845548 likely benign Wilson disease 2024-02-05 criteria provided, single submitter clinical testing

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