Submissions for variant NM_001130987.2(DYSF):c.3086-17G>A

gnomAD frequency: 0.18932  dbSNP: rs3764971

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080262	SCV000112157	benign	not specified	2013-04-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080262	SCV000309664	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000080262	SCV000517086	benign	not specified	2016-01-18	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.
Genome-Nilou Lab	RCV001527219	SCV001738165	benign	Miyoshi muscular dystrophy 1	2021-06-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001664341	SCV001876195	benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001664340	SCV001876196	benign	Distal myopathy with anterior tibial onset	2021-07-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055162	SCV002328744	benign	Qualitative or quantitative defects of dysferlin	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004709226	SCV005240202	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000080262	SCV001919649	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080262	SCV001955645	benign	not specified		no assertion criteria provided	clinical testing