ClinVar Miner

Variants studied for agenesis of the corpus callosum with peripheral neuropathy

Included ClinVar conditions (1):
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
15 33 174 26 35 1 277

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC12A6 15 33 169 22 33 1 266
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: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 115 21 30 0 167
Natera, Inc. 0 0 55 3 8 0 66
Counsyl 0 31 9 2 0 0 42
OMIM 10 0 0 0 0 0 10
Baylor Genetics 4 1 1 0 0 0 6
GeneReviews 6 0 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 2 3 0 5
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
Integrated Genetics/Laboratory Corporation of America 2 1 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 2 0 2
Myriad Women's Health, Inc. 2 0 0 0 0 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.