Submissions for variant NM_144988.4(ALG14):c.31G>A (p.Ala11Thr)

gnomAD frequency: 0.00753  dbSNP: rs34364382

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000432703	SCV000510728	likely benign	not provided	2016-07-13	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago	RCV000503682	SCV000593102	likely benign	not specified	2015-11-09	criteria provided, single submitter	clinical testing
Invitae	RCV001257053	SCV000655553	benign	Congenital myasthenic syndrome 15	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000432703	SCV001894272	benign	not provided	2020-09-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28820871)
CeGaT Center for Human Genetics Tuebingen	RCV000432703	SCV002544296	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ALG14: BP4, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002480277	SCV002799989	likely benign	Congenital myasthenic syndrome 15; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies; Myopathy, epilepsy, and progressive cerebral atrophy	2021-09-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001257053	SCV004049509	likely benign	Congenital myasthenic syndrome 15	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003343806	SCV004049510	likely benign	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003343807	SCV004049511	likely benign	Myopathy, epilepsy, and progressive cerebral atrophy	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932543	SCV004748877	benign	ALG14-related condition	2020-04-27	criteria provided, single submitter	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).