Submissions for variant NM_001099922.3(ALG13):c.975T>G (p.Thr325=)

gnomAD frequency: 0.00008  dbSNP: rs767735916

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002314574	SCV000848342	likely benign	Inborn genetic diseases	2016-11-29	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000863231	SCV001003857	benign	Developmental and epileptic encephalopathy, 36	2024-01-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000863231	SCV002524909	benign	Developmental and epileptic encephalopathy, 36	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000863231	SCV002807816	likely benign	Developmental and epileptic encephalopathy, 36	2021-12-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003432753	SCV004167453	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	ALG13: BP4, BS2