ClinVar Miner

Submissions for variant NM_002666.5(PLIN1):c.814G>A (p.Val272Met)

gnomAD frequency: 0.00086  dbSNP: rs145476436
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Total submissions: 3
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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 RCV000445424 SCV000537097 likely benign Monogenic diabetes 2015-06-23 criteria provided, single submitter research ACMG Criteria: BS2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV000913672 SCV001058826 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000913672 SCV005213977 likely benign not provided criteria provided, single submitter not provided

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