Submissions for variant NM_001130987.2(DYSF):c.951+4T>C

gnomAD frequency: 0.09951  dbSNP: rs11903960

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080332	SCV000112227	benign	not specified	2015-04-24	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080332	SCV000269061	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	c.951+4T>C in intron 9 of DYSF: This variant is not expected to have clinical si gnificance because it has been identified in 12.5% (551/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs11903960).
PreventionGenetics, part of Exact Sciences	RCV000080332	SCV000309709	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000367595	SCV000431692	likely benign	Miyoshi myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000405200	SCV000431693	likely benign	Limb-Girdle Muscular Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000080332	SCV000519403	benign	not specified	2016-02-10	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.
Illumina Laboratory Services, Illumina	RCV001137565	SCV001297521	benign	Qualitative or quantitative defects of dysferlin	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001137565	SCV001718097	benign	Qualitative or quantitative defects of dysferlin	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527164	SCV001738097	benign	Miyoshi muscular dystrophy 1	2021-06-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000080332	SCV000151038	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc.	RCV001273972	SCV001457609	benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000080332	SCV001920459	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080332	SCV001959999	benign	not specified		no assertion criteria provided	clinical testing