Submissions for variant NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)

gnomAD frequency: 0.00314  dbSNP: rs145403829

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175779	SCV000227336	benign	not specified	2015-05-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000175779	SCV000247158	uncertain significance	not specified	2015-05-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891718	SCV000306920	likely benign	DAG1-related condition	2019-06-18	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).
GeneDx	RCV000543538	SCV000512785	benign	not provided	2018-04-09	criteria provided, single submitter	clinical testing
Invitae	RCV001080136	SCV000650617	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	2024-01-26	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000543538	SCV001143706	uncertain significance	not provided	2021-07-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000543538	SCV001153960	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	DAG1: BS2
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262919	SCV001440973	likely benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	2019-01-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000543538	SCV001930616	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000543538	SCV001974721	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000543538	SCV001979915	likely benign	not provided		no assertion criteria provided	clinical testing