ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1372-3dup (rs876657769)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000220968 SCV000271617 uncertain significance not specified 2015-05-14 criteria provided, single submitter clinical testing The c.1372-3_1372-2insC variant in DES has not been previously reported in indiv iduals with cardiomyopathy, but has been identified in 3/11576 Latino chromosome s by the Exome Aggregation Consortium (ExAC, Th is variant results in the insertion of a single nucleotide in the 3' splice regi on. Computational tools do not suggest an impact to splicing. However, this info rmation is not predictive enough to rule out pathogenicity. In summary, the clin ical significance of the c.1372-3_1372-2insC variant is uncertain.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000824726 SCV000342348 uncertain significance not provided 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000220968 SCV000568063 likely benign not specified 2015-10-26 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 RCV001440302 SCV001643208 likely benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2019-11-12 criteria provided, single submitter clinical testing

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