ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.1009G>A (p.Val337Ile) (rs5215)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146099 SCV000193316 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000146099 SCV000304660 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357357 SCV000369161 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.
Illumina Clinical Services Laboratory,Illumina RCV000262909 SCV000369162 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 RCV000576497 SCV000369163 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.
Athena Diagnostics Inc RCV000146099 SCV000677327 benign not specified 2021-06-02 criteria provided, single submitter clinical testing
Invitae RCV001512206 SCV001719578 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000262909 SCV001749014 benign Transient neonatal diabetes mellitus 3 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533219 SCV001749015 benign Permanent neonatal diabetes mellitus 2 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000576497 SCV001749032 benign Hyperinsulinemic hypoglycemia, familial, 2 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001512206 SCV001871118 benign not provided 2018-09-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31118516, 30389748, 26551672, 27398621, 17257281, 22958899)
Natera, Inc. RCV001275131 SCV001459962 benign Permanent neonatal diabetes mellitus 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000146099 SCV001741294 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000146099 SCV001951580 benign not specified no assertion criteria provided clinical testing

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