Submissions for variant NM_000207.3(INS):c.188-10G>A

gnomAD frequency: 0.00262  dbSNP: rs41275198

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117278	SCV000151452	likely benign	not specified	2016-11-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000311427	SCV000369881	likely benign	Transient Neonatal Diabetes, Dominant/Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000338328	SCV000369882	likely benign	Maturity onset diabetes mellitus in young	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000885544	SCV001028996	benign	not provided	2023-12-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001105129	SCV001262051	benign	Maturity-onset diabetes of the young type 10	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.
GeneDx	RCV000885544	SCV001946357	benign	not provided	2019-11-21	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002464114	SCV002605396	benign	Neonatal insulin-dependent diabetes mellitus		criteria provided, single submitter	research	Mutations in INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, as this mutation can cause beta cell destruction. However no sufficient evidence is found to ascertain the role of this particular variant rs41275198, yet.
Fulgent Genetics, Fulgent Genetics	RCV002490797	SCV002795137	likely benign	Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4	2021-12-22	criteria provided, single submitter	clinical testing