ClinVar Miner

Submissions for variant NM_001927.4(DES):c.735+20C>T

gnomAD frequency: 0.00694  dbSNP: rs151226355
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Total submissions: 13
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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 RCV000037250 SCV000060907 benign not specified 2008-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000037250 SCV000308544 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001650866 SCV001472631 benign not provided 2024-11-14 criteria provided, single submitter clinical testing
GeneDx RCV001650866 SCV001864280 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054651 SCV002360890 benign Desmin-related myofibrillar myopathy 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650866 SCV005246609 benign not provided criteria provided, single submitter not provided
Wellcome Centre for Mitochondrial Research, Newcastle University RCV000239638 SCV000298018 uncertain significance Myofibrillar myopathy 2016-08-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000037250 SCV001744925 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037250 SCV001924229 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037250 SCV001927165 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037250 SCV001955526 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037250 SCV001972381 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001650866 SCV002035506 likely benign not provided no assertion criteria provided clinical testing

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