ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12092C>A (p.Pro4031Gln)

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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 RCV001172503 SCV001335556 uncertain significance Monogenic diabetes 2019-02-22 criteria provided, single submitter research ACMG criteria: BP1 (missense where LOF is mechanism of disease)= VUS (REVEL 0.147 +PP3 (5 predictors) + BP4 (4 predictors) = conflicting data, not using)

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