ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.610A>G (p.Met204Val)

gnomAD frequency: 0.00009  dbSNP: rs200605351
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001280021 SCV001642747 likely benign Wilson disease 2023-12-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507827 SCV001713639 uncertain significance not provided 2020-06-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001280021 SCV001977191 uncertain significance Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001507827 SCV001999011 uncertain significance not provided 2019-09-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001280021 SCV001467167 uncertain significance Wilson disease 2020-04-15 no assertion criteria provided clinical testing

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