ClinVar Miner

Submissions for variant NM_001927.4(DES):c.639+13_639+15del (rs876657448)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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 RCV000466080 SCV000562351 likely benign not provided 2018-09-05 criteria provided, single submitter clinical testing
Invitae RCV001467943 SCV001671975 likely benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2018-09-03 criteria provided, single submitter clinical testing

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