Submissions for variant NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)

gnomAD frequency: 0.00072  dbSNP: rs117209107

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000335532	SCV000335938	benign	not specified	2015-10-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000335532	SCV000613062	benign	not specified	2016-12-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000556875	SCV000650621	benign	Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	2024-01-22	criteria provided, single submitter	clinical testing
Mendelics	RCV000190546	SCV001136527	benign	Autosomal recessive limb-girdle muscular dystrophy type 2P	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001723761	SCV001950467	benign	not provided	2018-12-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25503980, 29036200, 31180159)
Fulgent Genetics, Fulgent Genetics	RCV000556875	SCV002795432	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	2021-08-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001723761	SCV004147393	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	DAG1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001723761	SCV005303480	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000190546	SCV000245427	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2P	2015-01-20	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003907668	SCV004727350	likely benign	DAG1-related disorder	2019-11-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).