ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) (rs58241708)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193433 SCV000246291 likely benign not specified 2015-03-19 criteria provided, single submitter clinical testing
Counsyl RCV000671926 SCV000796962 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2018-01-05 criteria provided, single submitter clinical testing
Invitae RCV000952127 SCV001098602 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000671926 SCV001138234 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2019-05-28 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001174394 SCV001337532 benign Monogenic diabetes 2018-12-07 criteria provided, single submitter research ACMG criteria: BS2 (23 cases and 24 controls in type2diabetesgenetics.org) + BS1 (0.9% MAF in gnomAD African pop) = benign (REVEL 0.445 + PP3/8 predictors + BP4/2 predictors = conflicting evidence, not using). Variant found in 46-year old male with T2DM, not overweight, treated with SU (PMID: 22210575); Reported to cause HI of infancy (AR) in summary table in PMID 23226049

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