ClinVar Miner

Submissions for variant NM_004409.5(DMPK):c.581+6T>C

gnomAD frequency: 0.53545  dbSNP: rs1799894
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116882 SCV000150968 benign not specified 2014-02-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716961 SCV005310942 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000610817 SCV000733900 benign Steinert myotonic dystrophy syndrome no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000116882 SCV001918088 benign not specified no assertion criteria provided clinical testing

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