ClinVar Miner

Submissions for variant NM_004409.5(DMPK):c.1789G>A (p.Val597Ile)

dbSNP: rs1310210930
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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 RCV000785076 SCV000923631 uncertain significance Steinert myotonic dystrophy syndrome 2019-01-01 criteria provided, single submitter clinical testing

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