ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.5C>G (p.Ala2Gly)

gnomAD frequency: 0.99996  dbSNP: rs7508518
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173085 SCV000224169 benign not specified 2018-05-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173085 SCV000247622 benign not specified 2015-07-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261376 SCV000415592 benign Leprechaunism syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000318884 SCV000415593 benign Rabson-Mendenhall syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000375797 SCV000415594 benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000173085 SCV000539389 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Mendelics RCV000375797 SCV001140965 benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001538633 SCV001473485 benign not provided 2021-03-24 criteria provided, single submitter clinical testing
GeneDx RCV001538633 SCV001756311 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000261376 SCV001981412 benign Leprechaunism syndrome 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000318884 SCV001981423 benign Rabson-Mendenhall syndrome 2021-08-19 criteria provided, single submitter clinical testing
Invitae RCV001538633 SCV002401291 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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