Submissions for variant NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del)

dbSNP: rs56717389

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861264	SCV001001524	benign	not provided	2019-03-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000861264	SCV001944533	benign	not provided	2019-10-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000233489	SCV002524939	benign	Developmental and epileptic encephalopathy, 36	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002519788	SCV003745302	benign	Inborn genetic diseases	2022-04-19	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530149	SCV001744872	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001530149	SCV001973109	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977650	SCV004788556	likely benign	ALG13-related disorder	2021-01-05	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).