ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1190G>A (p.Arg397Gln) (rs201806320)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215086 SCV000272208 uncertain significance not specified 2015-07-02 criteria provided, single submitter clinical testing The p.Arg397Gln variant in NEXN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/15976 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201806320). Computational prediction tools and conservation analysis do not p rovide strong support for or against an impact to the protein. In summary, the c linical significance of the p.Arg397Gln variant is uncertain.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769823 SCV000901249 uncertain significance Cardiomyopathy 2017-02-28 criteria provided, single submitter clinical testing

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