ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1252-5dup

dbSNP: rs768326968
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841497 SCV000983467 likely benign not provided 2018-04-05 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.
Ambry Genetics RCV002409004 SCV002680836 likely benign Cardiovascular phenotype 2021-05-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV003768597 SCV004577114 benign Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2023-04-27 criteria provided, single submitter clinical testing

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