Submissions for variant NM_001099922.3(ALG13):c.2485A>G (p.Met829Val)

gnomAD frequency: 0.00046  dbSNP: rs368075878

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000482258	SCV000573202	likely benign	not provided	2020-11-20	criteria provided, single submitter	clinical testing
Invitae	RCV000862700	SCV001003241	likely benign	Developmental and epileptic encephalopathy, 36	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002431416	SCV002740830	likely benign	Inborn genetic diseases	2018-03-19	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.
Revvity Omics, Revvity	RCV000862700	SCV003826154	uncertain significance	Developmental and epileptic encephalopathy, 36	2021-04-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000482258	SCV001930254	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000482258	SCV001973248	likely benign	not provided		no assertion criteria provided	clinical testing