ClinVar Miner

Variants studied for obsolete isolated corpus callosum agenesis

Included ClinVar conditions (32):
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 total
31 15 8 0 0 53

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CDH2 9 1 0 9
DCC 9 0 0 9
TUBA1A 2 1 0 3
​intergenic 1 0 1 2
ARID1B 1 1 0 2
CREBBP 2 0 0 2
ADNP 0 1 0 1
ADSS2, AHCTF1, AKT3, CATSPERE, CEP170, CHML, CNST, COX20, DESI2, EFCAB2, EXO1, FH, FMN2, GREM2, HNRNPU, KIF26B, KMO, LINC02897, MAP1LC3C, OPN3, PLD5, RGS7, SCCPDH, SDCCAG8, SMYD3, SPMIP3, TFB2M, WDR64, ZBTB18, ZNF124, ZNF669, ZNF670, ZNF695 1 0 0 1
ARID1B, CLDN20, NOX3, SNX9, TFB1M, TIAM2, TMEM242, ZDHHC14 1 0 0 1
ARMC9 0 0 1 1
ARX 0 1 0 1
AUTS2 0 1 0 1
BCL11A 1 0 0 1
BCOR 0 0 1 1
BORCS5 0 1 0 1
C2CD3, LOC121392929 0 0 1 1
CDK5RAP2 0 1 0 1
COL4A1 0 1 0 1
CSRNP3, GALNT3, SCN2A, SCN3A 1 0 0 1
DHX16 0 1 0 1
DYNC1H1 0 0 1 1
EP300 0 0 1 1
ERCC2 1 0 0 1
FZD3 0 1 0 1
KIF4A 0 1 0 1
LOC126805688, YARS1 0 1 0 1
LOC126863207, MID1 0 0 1 1
MED12 1 0 0 1
PIK3CA 0 0 1 1
SETD2 1 0 0 1
SLC12A6 0 1 0 1
TMLHE 0 1 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance total
Neurogenetics Research; Murdoch Childrens Research Institute 9 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 5 9
Core Molecular Diagnostic Lab, McGill University Health Centre 9 0 0 9
Dobyns Lab, Seattle Children's Research Institute 3 5 0 8
Medical Genetics Laboratory, CHRU Nancy 5 0 0 5
Genetics Institute, Tel Aviv Sourasky Medical Center 1 3 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 2
Dr. Guy Rouleau's laboratory, McGill University 0 1 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 1

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