ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.86G>T (p.Gly29Val) (rs876657931)

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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 RCV000220183 SCV000272218 uncertain significance not specified 2015-01-19 criteria provided, single submitter clinical testing The p.Gly29Val variant in NEXN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis suggest that this variant may impact the protein, th ough this information is not predictive enough to determine pathogenicity. In su mmary, the clinical significance of the p.Gly29Val variant is uncertain.
Fulgent Genetics,Fulgent Genetics RCV000765399 SCV000896675 uncertain significance Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2018-10-31 criteria provided, single submitter clinical testing

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