ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.895C>T (p.Pro299Ser)

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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 RCV001172508 SCV001335561 uncertain significance Monogenic diabetes 2018-07-27 criteria provided, single submitter research ACMG criteria: PM2, BP1 (missense in gene with truncating known), (REVEL score 0.242 + 9 BP4 predictors= conflicting evidence, not using)= VUS

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