ClinVar Miner

Submissions for variant NM_001927.4(DES):c.114G>T (p.Ala38=) (rs368901105)

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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, Partners HealthCare Personalized Medicine RCV000037227 SCV000060884 likely benign not specified 2010-04-09 criteria provided, single submitter clinical testing
Invitae RCV000869830 SCV001011289 likely benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2020-05-20 criteria provided, single submitter clinical testing

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