Submissions for variant NM_004393.6(DAG1):c.1233G>A (p.Val411=)

gnomAD frequency: 0.00249  dbSNP: rs145765079

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177200	SCV000229038	likely benign	not specified	2015-02-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001289404	SCV000527441	likely benign	not provided	2020-09-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25671699)
Invitae	RCV000558401	SCV000650601	benign	Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	2024-01-24	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV001289404	SCV001477191	likely benign	not provided	2019-12-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000177200	SCV002071054	likely benign	not specified	2018-11-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001289404	SCV004147399	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	DAG1: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003917647	SCV004735891	likely benign	DAG1-related condition	2019-12-09	criteria provided, single submitter	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).