ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.865-5G>A (rs727505353)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156912 SCV000206633 uncertain significance not specified 2016-04-26 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000156912 SCV000531383 likely benign not specified 2016-08-29 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 RCV000869575 SCV001011013 likely benign not provided 2018-09-11 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157392 SCV000207130 uncertain significance Primary dilated cardiomyopathy 2014-08-05 no assertion criteria provided clinical testing

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