ClinVar Miner

Submissions for variant NM_000207.3(INS):c.188-16C>T

gnomAD frequency: 0.00616  dbSNP: rs5507
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030070 SCV000052725 benign Neonatal diabetes mellitus 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
PreventionGenetics, part of Exact Sciences RCV000249140 SCV000302990 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001588831 SCV001824891 likely benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000249140 SCV002071429 benign not specified 2018-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001588831 SCV002406737 benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464076 SCV002605397 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 rs5507, yet.
Fulgent Genetics, Fulgent Genetics RCV002496459 SCV002805746 likely benign Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4 2021-11-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001588831 SCV004564047 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001588831 SCV005223142 likely benign not provided criteria provided, single submitter not provided

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