Submissions for variant NM_001130987.2(DYSF):c.888+11T>C

gnomAD frequency: 0.13574  dbSNP: rs13428076

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080329	SCV000112224	benign	not specified	2015-04-24	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080329	SCV000269060	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	c.888+11T>C in intron 8 of DYSF: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 14.9% (656/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS; dbSNP rs13428076).
PreventionGenetics, part of Exact Sciences	RCV000080329	SCV000309706	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000404162	SCV000431690	likely benign	Miyoshi myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000310323	SCV000431691	likely benign	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000080329	SCV000519402	benign	not specified	2016-01-29	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	RCV001142309	SCV001302742	benign	Qualitative or quantitative defects of dysferlin	2018-01-13	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.
Genome-Nilou Lab	RCV001527160	SCV001738093	benign	Miyoshi muscular dystrophy 1	2021-06-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001664354	SCV001875848	benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001664353	SCV001875849	benign	Distal myopathy with anterior tibial onset	2021-07-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001142309	SCV002407323	benign	Qualitative or quantitative defects of dysferlin	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004710480	SCV005257031	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000080329	SCV001919098	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080329	SCV001955159	benign	not specified		no assertion criteria provided	clinical testing