ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) (rs116091486)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000242632 SCV000526109 benign not specified 2016-05-24 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.
Integrated Genetics/Laboratory Corporation of America RCV000029380 SCV000052028 benign Wilson disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Invitae RCV000029380 SCV000626864 benign Wilson disease 2018-01-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242632 SCV000301726 likely benign not specified criteria provided, single submitter clinical testing

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