Submissions for variant NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del)

dbSNP: rs772766102

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080879	SCV000554238	benign	Developmental and epileptic encephalopathy, 36	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000710504	SCV000718283	likely benign	not provided	2022-09-16	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Athena Diagnostics	RCV000710504	SCV000840740	benign	not provided	2018-01-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710504	SCV001962653	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	ALG13: BS2
Genome-Nilou Lab	RCV001080879	SCV002524929	benign	Developmental and epileptic encephalopathy, 36	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002451147	SCV002738379	likely benign	Inborn genetic diseases	2017-09-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000710504	SCV001740322	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710504	SCV001798636	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710504	SCV001930767	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710504	SCV001975285	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004752904	SCV005344504	benign	ALG13-related disorder	2024-09-25	no assertion criteria provided	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).