ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) (rs148709148)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732728 SCV000860709 uncertain significance not provided 2018-04-02 criteria provided, single submitter clinical testing
Invitae RCV000732728 SCV001018587 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001174392 SCV001337530 likely benign Monogenic diabetes 2018-02-27 criteria provided, single submitter research ACMG criteria: PP3 (3 predictors), BP4 (7 predictors), BS2 (3 cases and 4 controls in T2DM, 59 copies in gnomAD)=likely benign

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