ClinVar Miner

Submissions for variant NM_178161.3(PTF1A):c.440C>T (p.Ala147Val)

dbSNP: rs1840912525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174488 SCV001337627 uncertain significance Monogenic diabetes 2018-05-18 criteria provided, single submitter research ACMG criteria: PM2 [PP3 (4 predictors), BP4 (6 predictors), Revel score 0.161, conflicting data = not using]= VUS

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