ClinVar Miner

Submissions for variant NM_003597.5(KLF11):c.410A>G (p.Asp137Gly)

gnomAD frequency: 0.00328  dbSNP: rs145933214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117437 SCV000151638 likely benign not specified 2013-09-05 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000664078 SCV000787530 benign Monogenic diabetes 2017-06-26 criteria provided, single submitter research ACMG Criteria:BP4 (9 predictors), BS2 (24 cases and 17 controls in type2diabetesgenetics.org), BS1 (1.21% 1000G African)
Invitae RCV000881038 SCV001024178 benign not provided 2023-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000881038 SCV002006360 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing

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