Submissions for variant NM_004006.3(DMD):c.94-3C>T

gnomAD frequency: 0.00018  dbSNP: rs373907950

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724503	SCV000229024	uncertain significance	not provided	2015-02-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088022	SCV000625988	benign	Duchenne muscular dystrophy	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000724503	SCV000714639	likely benign	not provided	2018-12-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444708	SCV002683182	likely benign	Cardiovascular phenotype	2024-12-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc.	RCV001271685	SCV001453001	likely benign	Dystrophin deficiency	2020-04-11	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539649	SCV004761163	likely benign	DMD-related disorder	2022-02-09	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).