ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1362A>G (p.Thr454=)

gnomAD frequency: 0.00016  dbSNP: rs150018860
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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 RCV000631243 SCV000752267 likely benign Wilson disease 2024-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000842118 SCV000984114 likely benign not provided 2018-04-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Fulgent Genetics, Fulgent Genetics RCV000631243 SCV002801180 likely benign Wilson disease 2022-04-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000631243 SCV004819124 likely benign Wilson disease 2023-12-01 criteria provided, single submitter clinical testing

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