Submissions for variant NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup)

dbSNP: rs750710267

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176464	SCV000228125	uncertain significance	not provided	2014-08-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001413868	SCV001615989	likely benign	Developmental and epileptic encephalopathy, 36	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002517697	SCV003677812	benign	Inborn genetic diseases	2022-03-29	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.
PreventionGenetics, part of Exact Sciences	RCV003965272	SCV004794344	benign	ALG13-related disorder	2020-08-19	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).