ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.727-10T>G

gnomAD frequency: 0.00005  dbSNP: rs375327581
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038085 SCV000061751 uncertain significance not specified 2012-05-25 criteria provided, single submitter clinical testing The 727-10T>G variant (DSP) has been identified in 1/7020 European American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS). This variant is located in the 3' splice region. Compu tational tools do not provide strong support for or against an impact to splicin g. Additional studies are needed to fully assess the clinical significance of th e 727-10T>G variant.
GeneDx RCV000766872 SCV000512872 uncertain significance not provided 2021-07-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 27535533)
Invitae RCV001087796 SCV000763477 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180073 SCV001344927 likely benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000038085 SCV002034359 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000766872 SCV002037283 likely benign not provided no assertion criteria provided clinical testing

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