ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2251-27C>A

gnomAD frequency: 0.01365  dbSNP: rs151289743
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001724413 SCV005215218 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702280 SCV001931863 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724413 SCV001959389 likely benign not provided no assertion criteria provided clinical testing

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