ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.614G>C (p.Gly205Ala) (rs144699575)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875947 SCV001018440 likely benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2019-12-31 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001174482 SCV001337621 uncertain significance Monogenic diabetes 2018-09-21 criteria provided, single submitter research ACMG criteria: PP3 (0.751 +10 predictors)= VUS

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