ClinVar Miner

Submissions for variant NM_001927.4(DES):c.736-35C>A

gnomAD frequency: 0.03434  dbSNP: rs41272701
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246024 SCV000308545 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000830636 SCV000972371 likely benign not provided 2018-06-15 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 Diagnostics Laboratory, University Medical Center Utrecht RCV000246024 SCV001931472 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000246024 SCV001953045 benign not specified no assertion criteria provided clinical testing

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