ClinVar Miner

Variants studied for agenesis of the corpus callosum with peripheral neuropathy

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
22 130 185 53 49 7 406

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 20 116 177 47 47 7 376
LOC126862097, SLC12A6 0 10 2 2 0 0 13
LOC129390683, SLC12A6 2 4 1 0 0 0 6
EMC4, SLC12A6 0 0 5 0 0 0 5
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: 26
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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
Baylor Genetics 12 56 1 0 0 0 69
Genome-Nilou Lab 5 3 9 15 30 0 62
Counsyl 0 31 9 2 0 0 42
Myriad Genetics, Inc. 2 31 0 0 0 0 33
Fulgent Genetics, Fulgent Genetics 3 14 4 2 0 0 23
OMIM 10 0 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 3 3 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
NYU Undiagnosed Diseases Program, NYU School of Medicine 1 1 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
3billion, Medical Genetics 0 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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