ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3894C>T (p.Val1298=)

gnomAD frequency: 0.00003  dbSNP: rs755044286
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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 RCV001446236 SCV001649279 likely benign Wilson disease 2023-10-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003394057 SCV004133147 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing ATP7B: BP4, BP7
All of Us Research Program, National Institutes of Health RCV001446236 SCV004844574 likely benign Wilson disease 2023-12-13 criteria provided, single submitter clinical testing

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