ClinVar Miner

Submissions for variant NM_005327.5(HADH):c.881A>G (p.Asn294Ser) (rs36030668)

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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 RCV000445389 SCV000537025 benign Monogenic diabetes 2018-11-21 criteria provided, single submitter research ACMG criteria: BA1(2 % MAF in Africans), BS2 (5 homo in gnomAD, 64 T2DM control~cases) [BP4 (4 predictors), PP3 (6 predictors), REVEL: 0.283--conflicting data, no predictors used]=benign
Genetic Services Laboratory,University of Chicago RCV000502882 SCV000595088 benign not specified 2019-04-29 criteria provided, single submitter clinical testing
Invitae RCV000865133 SCV001006051 benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2019-12-31 criteria provided, single submitter clinical testing

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