ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.865-5G>A

gnomAD frequency: 0.00005  dbSNP: rs727505353
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 RCV000869575 SCV000531383 likely benign not provided 2020-11-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001456331 SCV001660109 likely benign Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2024-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444647 SCV002682528 likely benign Cardiovascular phenotype 2021-09-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Blueprint Genetics RCV000157392 SCV000207130 uncertain significance Primary dilated cardiomyopathy 2014-08-05 no assertion criteria provided clinical testing

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