Submissions for variant NM_001099922.3(ALG13):c.2796A>T (p.Pro932=)

gnomAD frequency: 0.00058  dbSNP: rs748742452

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000608082	SCV000729308	likely benign	not specified	2017-08-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860862	SCV001001031	likely benign	Developmental and epileptic encephalopathy, 36	2025-01-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000860862	SCV002798012	likely benign	Developmental and epileptic encephalopathy, 36	2021-10-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001702814	SCV004167465	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	ALG13: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001702814	SCV005206718	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702814	SCV001929980	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702814	SCV001967407	likely benign	not provided		no assertion criteria provided	clinical testing