Variants studied for Qualitative or quantitative defects of dysferlin

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
450	129	782	1992	141	1	3340

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
DYSF	448	126	779	1973	140	0	3312
DYSF, LOC122787137	1	3	3	18	1	1	26
DYSF, LOC110121121	1	0	0	1	0	0	2

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	446	117	622	1976	140	0	3301
Illumina Laboratory Services, Illumina	5	1	175	18	12	0	211
Jain Foundation	2	9	0	0	0	0	11
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	2	0	0	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	2	0	0	0	0	0	2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	2	0	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	0	1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town	1	0	0	0	0	0	1

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