ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.732C>A (p.Pro244=) (rs201171783)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618507 SCV000739947 likely benign Cardiovascular phenotype 2016-04-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769816 SCV000901242 benign Cardiomyopathy 2017-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000041181 SCV000236112 benign not specified 2014-10-03 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.
Illumina Clinical Services Laboratory,Illumina RCV000378509 SCV000358971 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286636 SCV000358972 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000458710 SCV000560166 benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2017-12-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041181 SCV000064872 likely benign not specified 2015-12-17 criteria provided, single submitter clinical testing p.Pro244Pro in exon 8 of NEXN: This variant is not expected to have clinical sig nificance because it does not result in an amino acid change and it is not locat ed within the splice consensus sequence. It has been identified in 0.1% (74/665 28) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs201171783).

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