ClinVar Miner

Variants studied for Agenesis of the corpus callosum with peripheral neuropathy

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
20 108 182 53 49 7 381

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC12A6 19 97 174 47 47 7 355
LOC126862097, SLC12A6 0 8 2 2 0 0 11
EMC4, SLC12A6 0 0 5 0 0 0 5
LOC129390683, SLC12A6 1 3 1 0 0 0 4
NOP10, SLC12A6 0 0 0 4 0 0 4
ATP2B2 0 0 0 0 1 0 1
CLN6 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 2 115 21 30 0 169
Natera, Inc. 0 2 62 12 9 0 85
Genome-Nilou Lab 5 3 9 15 30 0 62
Baylor Genetics 11 41 1 0 0 0 53
Counsyl 0 31 9 2 0 0 42
Myriad Genetics, Inc. 2 31 0 0 0 0 33
OMIM 10 0 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 4 4 0 8
Fulgent Genetics, Fulgent Genetics 1 2 3 2 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 0 0 0 0 6
GeneReviews 0 0 0 0 0 6 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 1 0 0 3 0 5
Genetic Services Laboratory, University of Chicago 2 0 2 0 0 0 4
Centogene AG - the Rare Disease Company 0 1 2 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 2 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Pars Genome Lab 0 0 0 0 2 0 2
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
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Human Genetics Laboratory, Faculty of Medicine of Tunis 0 1 0 0 0 0 1

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