ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1544-53A>C

gnomAD frequency: 0.69725  dbSNP: rs2147363
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000835494 SCV000977287 benign not provided 2018-06-14 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.
Invitae RCV001517042 SCV001725435 benign Wilson disease 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001517042 SCV001750139 benign Wilson disease 2021-07-01 criteria provided, single submitter clinical testing

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