Submissions for variant NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del)

dbSNP: rs750710267

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724436	SCV000700767	uncertain significance	not provided	2017-03-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000724436	SCV000729311	likely benign	not provided	2021-04-21	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000785080	SCV000923635	uncertain significance	Developmental and epileptic encephalopathy, 36	2019-01-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000785080	SCV000950892	likely benign	Developmental and epileptic encephalopathy, 36	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002530951	SCV003701516	likely benign	Inborn genetic diseases	2021-04-07	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.
CeGaT Center for Human Genetics Tuebingen	RCV000724436	SCV004167461	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	ALG13: BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724436	SCV001927780	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724436	SCV001974352	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915690	SCV004736062	likely benign	ALG13-related disorder	2019-02-21	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).