ClinVar Miner

Submissions for variant NM_000207.3(INS):c.-18+4_-18+5insTTGC

gnomAD frequency: 0.07357  dbSNP: rs3842740
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000337866 SCV000369899 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000401881 SCV000369900 likely benign Transient Neonatal Diabetes, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353899 SCV000483265 benign Autosomal recessive DOPA responsive dystonia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001660593 SCV001874655 benign not provided 2018-09-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16380501, 20628762, 19247282)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003463781 SCV004190178 uncertain significance Maturity-onset diabetes of the young type 10 criteria provided, single submitter research Potent mutations in INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, as mutations in this gene can cause beta cell destruction. However no sufficient evidence is found to ascertain the role of this particular variant rs3842740, yet.

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