Submissions for variant NM_000207.3(INS):c.*9C>T

gnomAD frequency: 0.16663  dbSNP: rs3842752

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249051	SCV000302987	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000289877	SCV000369875	likely benign	Transient Neonatal Diabetes, Dominant/Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000344882	SCV000369876	likely benign	Maturity onset diabetes mellitus in young	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000402726	SCV000483260	benign	Autosomal recessive DOPA responsive dystonia	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000249051	SCV000613771	benign	not specified	2017-08-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103214	SCV001259940	likely benign	Maturity-onset diabetes of the young type 10	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV001651115	SCV001863244	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 12610512, 14551916)
Breakthrough Genomics, Breakthrough Genomics	RCV001651115	SCV005223140	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002221215	SCV002498734	association	Hypoinsulinemia		no assertion criteria provided	research	Mutations in this gene can cause early onset diabetes mellitus which is insulin dependent. Poor response to sulfonylureas, as this mutation can cause beta cell destruction.