ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1253+8C>T (rs2908274)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117136 SCV000151297 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000291162 SCV000469412 benign Hyperinsulinism, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320390 SCV000469413 benign Transient Neonatal Diabetes, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377488 SCV000469414 benign Permanent neonatal diabetes mellitus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285372 SCV000469415 benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117136 SCV000302762 benign not specified criteria provided, single submitter clinical testing

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