ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) (rs78433961)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664155 SCV000787607 uncertain significance Monogenic diabetes 2017-03-10 criteria provided, single submitter research ACMG Criteria:BP4 (9 predictors)
Fulgent Genetics,Fulgent Genetics RCV000765480 SCV000896771 uncertain significance Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinemic hypoglycemia familial 5; Leprechaunism syndrome; Pineal hyperplasia AND diabetes mellitus syndrome 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001129802 SCV001289349 benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001129803 SCV001289350 uncertain significance Leprechaunism syndrome 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001129804 SCV001289351 benign Pineal hyperplasia AND diabetes mellitus syndrome 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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