Submissions for variant NM_000207.3(INS):c.187+11T>C

gnomAD frequency: 0.93263  dbSNP: rs5506

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244371	SCV000302989	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000390933	SCV000369883	benign	Transient Neonatal Diabetes, Dominant/Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000298547	SCV000369884	benign	Maturity onset diabetes mellitus in young	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000301754	SCV000483261	benign	Autosomal recessive DOPA responsive dystonia	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000244371	SCV000613773	benign	not specified	2017-08-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001106254	SCV001263299	benign	Maturity-onset diabetes of the young type 10	2018-01-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515509	SCV001723596	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001515509	SCV001888241	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500856	SCV002807808	likely benign	Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4	2022-01-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001515509	SCV005321276	benign	not provided		criteria provided, single submitter	not provided
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002221216	SCV002498721	benign	Type 2 diabetes mellitus		no assertion criteria provided	research