Submissions for variant NM_004006.3(DMD):c.94-9dup

dbSNP: rs3834997

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001636645	SCV000235822	benign	not provided	2018-06-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28859693)
PreventionGenetics, part of Exact Sciences	RCV000080842	SCV000309952	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000315382	SCV000482282	likely benign	Dilated cardiomyopathy 3B	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000080842	SCV000613140	benign	not specified	2017-07-25	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000578119	SCV000679897	benign	Duchenne muscular dystrophy	2017-08-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000080842	SCV000919266	benign	not specified	2018-07-19	criteria provided, single submitter	clinical testing	Variant summary: DMD c.94-9dupT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.096 in 84206 control chromosomes in the ExAC database, including 300 homozygotes. The observed variant frequency is approximately 8.61 fold of the estimated maximal expected allele frequency for a pathogenic variant in DMD causing Dystrophiopathies phenotype (0.011), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.94-9dupT in individuals affected with Dystrophiopathies and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000578119	SCV001731035	benign	Duchenne muscular dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001636645	SCV002058056	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490703	SCV002797437	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B	2021-08-11	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000080842	SCV000112744	benign	not specified	2014-01-28	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000080842	SCV002034589	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001636645	SCV002035713	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001826767	SCV002093593	benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2017-08-09	no assertion criteria provided	clinical testing