ClinVar Miner

Variants studied for Myopathy, centronuclear, 2

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
8 6 328 258 39 2 601

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 8 6 310 257 39 2 582
BIN1, LOC122819150 0 0 13 1 0 0 14
BIN1, LOC112806045 0 0 2 0 0 0 2
ASIC4, SPEG 0 0 1 0 0 0 1
BIN1, CYP27C1, ERCC3, GPR17, IWS1, LIMS2, MAP3K2, MYO7B, PROC 0 0 1 0 0 0 1
BIN1, LOC112806045, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 1 252 253 28 0 535
Illumina Laboratory Services, Illumina 0 0 71 4 9 0 84
Revvity Omics, Revvity 0 2 29 0 0 0 31
Genome-Nilou Lab 0 0 0 0 13 0 13
OMIM 6 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 1 0 4 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 3 1 0 0 4
SIB Swiss Institute of Bioinformatics 0 4 0 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Breda Genetics srl 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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