ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1326G>T (p.Gly442=)

gnomAD frequency: 0.00001  dbSNP: rs1371066375
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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 RCV001343041 SCV001536997 likely benign Wilson disease 2023-08-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001343041 SCV002087878 uncertain significance Wilson disease 2021-01-27 no assertion criteria provided clinical testing

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