ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1618A>G (p.Met540Val) (rs201390657)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618620 SCV000737367 uncertain significance Cardiovascular phenotype 2015-12-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
GeneDx RCV000213635 SCV000236136 likely benign not specified 2018-03-12 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 RCV000547608 SCV000648479 benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2017-07-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213635 SCV000270615 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Met540Val in exon 12 of NEXN: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (16/3034) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS;).

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