Submissions for variant NM_004006.3(DMD):c.3432+2036A>C

gnomAD frequency: 0.00580  dbSNP: rs182575709

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000225727	SCV000112481	likely benign	not specified	2016-11-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000225727	SCV000168176	benign	not specified	2014-03-06	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.
Invitae	RCV000206025	SCV000261315	benign	Duchenne muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000999379	SCV001155966	benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	DMD: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999379	SCV002047863	benign	not provided	2020-10-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537358	SCV004749568	benign	DMD-related disorder	2019-07-19	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).