ClinVar Miner

Submissions for variant NM_002666.5(PLIN1):c.902C>T (p.Thr301Met) (rs74407840)

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Total submissions: 3
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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 RCV000785103 SCV000923661 uncertain significance Familial partial lipodystrophy 4 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000969373 SCV001116886 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001174448 SCV001337587 likely benign Monogenic diabetes 2018-04-09 criteria provided, single submitter research ACMG criteria: PP3 (2 predictors), BP4 (7 predictors), REVEL 0.058, BS2 (15 cases and 13 controls in type2diabetesgenetics.org)=likely benign

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