ClinVar Miner

Submissions for variant NM_001927.4(DES):c.822C>T (p.Leu274=) (rs763599850)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000292844 SCV000337969 uncertain significance not provided 2015-12-24 criteria provided, single submitter clinical testing
Invitae RCV001078951 SCV000773409 likely benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2020-05-20 criteria provided, single submitter clinical testing

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