ClinVar Miner

Submissions for variant NM_001927.4(DES):c.639+13_639+15del

dbSNP: rs876657448
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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, Mass General Brigham Personalized Medicine RCV000221494 SCV000270096 likely benign not specified 2014-12-19 criteria provided, single submitter clinical testing c.639+13_639+15del in intron 2 of DES: This variant is not expected to have clin ical significance because it is not located within the splice consensus sequence .
Invitae RCV001467943 SCV001671975 likely benign Desmin-related myofibrillar myopathy 2023-05-21 criteria provided, single submitter clinical testing

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