Submissions for variant NM_019109.5(ALG1):c.1149C>T (p.Phe383=)

gnomAD frequency: 0.48295  dbSNP: rs1047732

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081982	SCV000113917	benign	not specified	2018-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000081982	SCV000517502	benign	not specified	2015-12-04	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001516759	SCV001725101	benign	ALG1-congenital disorder of glycosylation	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001516759	SCV001769193	benign	ALG1-congenital disorder of glycosylation	2021-07-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000081982	SCV002500484	benign	not specified	2022-03-18	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000081982	SCV001739860	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081982	SCV001952078	benign	not specified		no assertion criteria provided	clinical testing