ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.688-10G>A (rs370574269)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229736 SCV000291373 likely benign not provided 2018-09-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000605590 SCV000710920 likely benign not specified 2016-11-17 criteria provided, single submitter clinical testing c.688-10G>A in intron 7 of NEXN: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It has been identified in 4/9752 of African chromosomes by the Exome Aggregation Co nsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs370574269).
GeneDx RCV000605590 SCV000715704 likely benign not specified 2017-02-13 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 RCV001493385 SCV001698010 likely benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2018-08-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000229736 SCV001742872 likely benign not provided no assertion criteria provided clinical testing

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