ClinVar Miner

Submissions for variant NM_000207.3(INS):c.-18+22G>A

gnomAD frequency: 0.00001  dbSNP: rs1051986248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502801 SCV000595234 uncertain significance not specified 2016-01-20 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464223 SCV002605412 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 rs1051986248, yet.

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