ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2463C>T (p.Pro821=)

gnomAD frequency: 0.00001  dbSNP: rs755237462
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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 RCV001279630 SCV001658478 likely benign Wilson disease 2024-08-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279630 SCV001466741 uncertain significance Wilson disease 2020-04-15 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579365 SCV001806949 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001579365 SCV001926732 likely benign not provided no assertion criteria provided clinical testing

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