Submissions for variant NM_004006.3(DMD):c.10789C>T (p.Leu3597=)

gnomAD frequency: 0.00486  dbSNP: rs1800281

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080431	SCV000112333	benign	not specified	2012-08-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000080431	SCV000168153	benign	not specified	2014-04-09	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080431	SCV000268943	benign	not specified	2015-07-23	criteria provided, single submitter	clinical testing	p.Leu3597Leu in exon 75 of DMD: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.7% (338/47956) of European chromosomes, including 129 hemizygotes, by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs1800281).
Invitae	RCV001083487	SCV000288038	benign	Duchenne muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000249277	SCV000317891	benign	Cardiovascular phenotype	2015-06-11	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000290962	SCV000482216	likely benign	Dilated cardiomyopathy 3B	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755512	SCV000603358	benign	not provided	2023-10-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000080431	SCV001370631	benign	not specified	2020-05-15	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001083487	SCV001736809	benign	Duchenne muscular dystrophy	2021-05-18	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000080431	SCV002066104	benign	not specified	2019-08-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504992	SCV002806540	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B	2022-02-18	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000755512	SCV001742692	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000755512	SCV001927599	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000755512	SCV001973432	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001831826	SCV002077587	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2020-01-11	no assertion criteria provided	clinical testing