ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) (rs5219)

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Total submissions: 22
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000786524 SCV000925346 drug response glibenclamide response - Efficacy reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.
PharmGKB RCV000786525 SCV000925347 drug response gliclazide response - Efficacy reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.
PharmGKB RCV000786526 SCV000925348 drug response glimepiride response - Efficacy reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.
PharmGKB RCV000786527 SCV000925349 drug response glipizide response - Efficacy reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.
PharmGKB RCV000786528 SCV000925350 drug response gliquidone response - Efficacy reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.
PharmGKB RCV000786529 SCV000925351 drug response sulfonamides, urea derivatives response - Efficacy reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.
Genetic Services Laboratory, University of Chicago RCV000146116 SCV000193333 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000146116 SCV000224239 benign not specified 2014-11-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000146116 SCV000304667 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294608 SCV000369188 likely benign Hyperinsulinism, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281825 SCV000369189 likely benign Transient Neonatal Diabetes, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385348 SCV000369190 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000576501 SCV000483234 likely benign Hyperinsulinemic hypoglycemia, familial, 2 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001093985 SCV000483235 likely benign Transient neonatal diabetes mellitus 3 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000020356 SCV000483236 benign Permanent neonatal diabetes mellitus 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576501 SCV000677330 benign Hyperinsulinemic hypoglycemia, familial, 2 2017-04-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001105584 SCV001262568 likely benign Maturity-onset diabetes of the young, type 13 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001512207 SCV001719579 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
OMIM RCV000009214 SCV000029432 risk factor Diabetes mellitus type 2, susceptibility to 2009-12-01 no assertion criteria provided literature only
OMIM RCV000009215 SCV000029433 drug response Exercise stress response, impaired, association with 2009-12-01 no assertion criteria provided literature only
GeneReviews RCV000020356 SCV000040740 benign Permanent neonatal diabetes mellitus 2011-07-05 no assertion criteria provided curation Converted during submission to Benign.
Natera, Inc. RCV000020356 SCV001459969 benign Permanent neonatal diabetes mellitus 2020-09-16 no assertion criteria provided clinical testing

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