ClinVar Miner

Submissions for variant NM_004409.5(DMPK):c.1267C>G (p.Leu423Val)

gnomAD frequency: 0.10749  dbSNP: rs527221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116883 SCV000150969 benign not specified 2013-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975018 SCV004796028 benign DMPK-related disorder 2019-10-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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