Submissions for variant NM_001099922.3(ALG13):c.2248-4A>G

gnomAD frequency: 0.00325  dbSNP: rs370438099

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000419937	SCV000519297	benign	not specified	2016-02-15	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	RCV000463027	SCV000554234	benign	Developmental and epileptic encephalopathy, 36	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313056	SCV000847468	benign	Inborn genetic diseases	2017-09-25	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab	RCV000463027	SCV002524924	benign	Developmental and epileptic encephalopathy, 36	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000463027	SCV002806259	benign	Developmental and epileptic encephalopathy, 36	2021-10-04	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573537	SCV001799557	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573537	SCV001931334	likely benign	not provided		no assertion criteria provided	clinical testing