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

dbSNP: rs1200339761

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
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	RCV002508809	SCV002818192	pathogenic	not provided	2022-12-17	criteria provided, single submitter	clinical testing
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.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001733579	SCV004806343	uncertain significance	Maturity-onset diabetes of the young type 8	2024-03-25	criteria provided, single submitter	clinical testing
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	flagged submission	clinical testing