ClinVar Miner

Submissions for variant NM_004409.5(DMPK):c.1697C>T (p.Pro566Leu)

gnomAD frequency: 0.00001  dbSNP: rs536277584
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662180 SCV000784529 uncertain significance Myotonic dystrophy 2018-03-05 criteria provided, single submitter clinical testing

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