ClinVar Miner

Submissions for variant NM_012232.6(CAVIN1):c.55G>A (p.Ala19Thr)

dbSNP: rs185645510
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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 RCV001174432 SCV001337571 uncertain significance Monogenic diabetes 2018-09-07 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.139 + 9 predictors; not using PP3/2 predictors)=VUS

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