ClinVar Miner

Submissions for variant NM_003597.5(KLF11):c.86G>A (p.Arg29Gln)

gnomAD frequency: 0.00188  dbSNP: rs150096859
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000268105 SCV000415755 likely benign Maturity-onset diabetes of the young type 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445417 SCV000536954 benign Monogenic diabetes 2015-11-20 criteria provided, single submitter research ACMG Criteria: PS3 (PMID:19122346), PP3, BS1 (ExAC, 1000G EAS), BS2 (type2diabetesgenetics.org), BP4
Invitae RCV001514109 SCV001721863 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001514109 SCV001837332 benign not provided 2021-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32041611, 19122346)
Fulgent Genetics, Fulgent Genetics RCV000268105 SCV002794909 likely benign Maturity-onset diabetes of the young type 7 2021-08-24 criteria provided, single submitter clinical testing

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