ClinVar Miner

Submissions for variant NM_001927.4(DES):c.600G>A (p.Leu200=) (rs1575014014)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842584 SCV000984609 likely benign not provided 2018-04-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000842584 SCV001077276 likely benign not provided 2018-10-12 criteria provided, single submitter clinical testing
Invitae RCV001496751 SCV001701462 likely benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2018-10-11 criteria provided, single submitter clinical testing

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