ClinVar Miner

Variants studied for autosomal recessive centronuclear myopathy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
12 7 205 60 20 1 282

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BIN1 7 5 183 60 19 1 252
SPEG 3 1 10 0 0 0 14
ASIC4, SPEG 2 1 8 0 0 0 11
BIN1, LOC112806045 0 0 3 0 0 0 3
CYP1B1 0 0 1 0 0 0 1
NF1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 1 118 56 10 0 185
Illumina Clinical Services Laboratory,Illumina 0 0 71 4 9 0 84
Baylor Genetics 0 0 13 0 0 0 13
OMIM 11 0 0 0 0 0 11
Genetic Services Laboratory, University of Chicago 1 0 4 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 4 0 0 0 0 4
Broad Institute Rare Disease Group, Broad Institute 0 2 1 0 1 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1

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