ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.512T>C (p.Ile171Thr) (rs372065024)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183651 SCV000236120 likely benign not specified 2017-04-04 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000183651 SCV000270616 likely benign not specified 2015-06-09 criteria provided, single submitter clinical testing p.Ile171Thr in exon 7 of NEXN: This variant is not expected to have clinical sig nificance because it has been identified in 0.9% (76/8584) of East Asian chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs372065024).
Invitae RCV000542710 SCV000648484 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619570 SCV000736019 likely benign Cardiovascular phenotype 2017-02-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768801 SCV000900173 uncertain significance Cardiomyopathy 2016-11-21 criteria provided, single submitter clinical testing

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