ClinVar Miner

Submissions for variant NM_002666.5(PLIN1):c.107G>T (p.Cys36Phe)

gnomAD frequency: 0.00062  dbSNP: rs140081686
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Total submissions: 2
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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 RCV000445366 SCV000537102 likely benign Monogenic diabetes 2016-04-08 criteria provided, single submitter research ACMG Criteria: PP3, BS2 (type2diabetesgenetics.org), BP4
Invitae RCV000900456 SCV001044776 benign not provided 2018-09-10 criteria provided, single submitter clinical testing

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