ClinVar Miner

Submissions for variant NM_001927.4(DES):c.210G>C (p.Arg70=)

dbSNP: rs761255472
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725053 SCV000333570 uncertain significance not provided 2015-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000302897 SCV000532577 likely benign not specified 2016-10-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059102 SCV002437538 likely benign Desmin-related myofibrillar myopathy 2024-10-30 criteria provided, single submitter clinical testing

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