Submissions for variant NM_019109.5(ALG1):c.840G>C (p.Leu280=)

gnomAD frequency: 0.04852  dbSNP: rs12921879

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081988	SCV000113923	benign	not specified	2016-03-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000081988	SCV000517515	benign	not specified	2016-02-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000524867	SCV000649508	benign	ALG1-congenital disorder of glycosylation	2024-02-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000524867	SCV002795964	benign	ALG1-congenital disorder of glycosylation	2021-07-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003964942	SCV004795209	benign	ALG1-related disorder	2023-12-01	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics	RCV004715658	SCV005296518	benign	not provided		criteria provided, single submitter	not provided