ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) (rs1801261)

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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 RCV000144984 SCV000192020 likely benign not specified 2013-03-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000144984 SCV000303797 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333350 SCV000369329 likely benign Hyperinsulinemic hypoglycemia, familial, 1 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 RCV000387837 SCV000369330 likely benign Permanent neonatal diabetes mellitus 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 RCV000260391 SCV000369331 likely benign Transient neonatal diabetes mellitus 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 RCV000710377 SCV000840587 benign not provided 2018-03-14 criteria provided, single submitter clinical testing
Invitae RCV000710377 SCV001720267 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000710377 SCV001950499 benign not provided 2019-09-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24768178, 22902787, 9075812, 25955821, 24959012, 22704848, 18758683, 18599530, 15842514, 15111507, 11246895, 31118371, 11289470)
Natera, Inc. RCV001277197 SCV001464095 benign Hereditary hyperinsulinism 2020-09-16 no assertion criteria provided clinical testing

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