ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1582G>C (p.Glu528Gln) (rs200071700)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000157390 SCV000207128 likely benign not specified 2015-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000157390 SCV000236113 likely benign not specified 2017-07-10 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 RCV000470637 SCV000560165 likely benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2017-03-22 criteria provided, single submitter clinical testing

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