ClinVar Miner

Submissions for variant NM_001927.4(DES):c.579-38C>T

gnomAD frequency: 0.50005  dbSNP: rs12991025
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254468 SCV000308541 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000830418 SCV000972153 benign not provided 2018-06-13 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.
Genome-Nilou Lab RCV001660223 SCV001876643 benign Dilated cardiomyopathy 1I 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002265712 SCV001876644 benign Desmin-related myofibrillar myopathy 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660224 SCV001876645 benign Neurogenic scapuloperoneal syndrome, Kaeser type 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830418 SCV005246608 benign not provided criteria provided, single submitter not provided

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