ClinVar Miner

Submissions for variant NM_001807.6(CEL):c.337C>T (p.Gln113Ter)

dbSNP: rs1200339761
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733579 SCV001984213 pathogenic Maturity-onset diabetes of the young type 8 2020-08-17 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001733579 SCV002762751 likely pathogenic Maturity-onset diabetes of the young type 8 2022-08-24 criteria provided, single submitter research ACMG codes:PVS1_VeryStrong, PM2_Moderate
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004798919 SCV002818192 pathogenic Maturity onset diabetes mellitus in young 2024-10-04 criteria provided, single submitter research PVS1,PM2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV001733579 SCV004801332 uncertain significance Maturity-onset diabetes of the young type 8 2024-03-18 criteria provided, single submitter clinical testing The assertion regarding the gene and its association with the disease is currently uncertain. It remains unknown whether loss-of-function variants of the gene contribute to the phenotype.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001733579 SCV004806343 uncertain significance Maturity-onset diabetes of the young type 8 2024-03-25 criteria provided, single submitter clinical testing

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