ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)

gnomAD frequency: 0.22765  dbSNP: rs5218
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146111 SCV000193328 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000146111 SCV000304666 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000576830 SCV000369176 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 Laboratory Services, Illumina RCV000300958 SCV000369177 likely benign Diabetes mellitus, transient neonatal, 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 Laboratory Services, Illumina RCV000353536 SCV000369178 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.
Athena Diagnostics RCV000576830 SCV000677329 benign Hyperinsulinemic hypoglycemia, familial, 2 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV001520555 SCV001729677 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001520555 SCV001873066 benign not provided 2018-09-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14871556, 29396286, 17327377, 17823772, 22916062, 22512215, 28460053, 21573802, 24018988, 1731660, 17727257, 16429405, 11310586, 26740944, 15115830, 24068186, 21765448, 25725792, 17257281, 14551916, 18290324)
Natera, Inc. RCV001275136 SCV001459967 benign Permanent neonatal diabetes mellitus 2020-09-16 no assertion criteria provided clinical testing

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