ClinVar Miner

Variants studied for spina bifida

Included ClinVar conditions (7):
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 affects association risk factor total
50 116 177 46 42 1 1 8 436

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor total
VANGL1 0 0 132 23 24 0 0 0 179
MTHFR 31 61 14 5 1 0 0 1 109
MTRR 12 48 6 2 1 0 0 0 68
CASQ2, VANGL1 0 0 0 11 13 0 0 0 24
C1orf167, MTHFR 0 0 7 1 1 0 0 0 9
RAD9B 2 6 0 0 0 0 0 0 8
MTR 0 0 4 3 0 0 0 0 7
PARD3 2 0 0 0 0 0 0 4 6
AMBRA1 0 0 5 0 0 0 0 0 5
MTHFD1 0 0 4 0 0 0 0 0 4
VANGL2 0 0 2 0 2 0 0 0 4
DLC1 0 0 0 0 0 0 0 2 2
FUZ 0 0 0 1 0 0 1 0 2
​intergenic 1 0 0 0 0 0 0 0 1
APAF1 0 0 1 0 0 0 0 0 1
ARSG, PRKAR1A, WIPI1 0 0 0 0 0 1 0 0 1
ITGB1 0 0 0 0 0 0 0 1 1
KMT5B 1 0 0 0 0 0 0 0 1
LOC121725046, VANGL1 0 0 1 0 0 0 0 0 1
LOC124403936, LOC130003663, LOC130003664, PARD3 1 0 0 0 0 0 0 0 1
SCRIB 0 1 0 0 0 0 0 0 1
TBXT 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor total
Illumina Laboratory Services, Illumina 0 0 146 35 36 0 0 0 217
Baylor Genetics 41 107 4 0 0 0 0 0 152
Fulgent Genetics, Fulgent Genetics 6 6 16 10 1 0 0 0 39
Finnell Lab, Baylor College of Medicine 2 6 0 0 0 0 0 0 8
Beijing Municipal Key Laboratory, Capital Institute of Pediatrics 3 0 0 0 0 0 0 4 7
Mendelics 1 0 0 1 3 0 0 0 5
Laboratorio di Genetica e Neuroscienze, Istituto Giannina Gaslini 0 0 1 0 0 0 0 4 5
Hongyan Wang Laboratory, Fudan University 0 0 5 0 0 0 0 0 5
Revvity Omics, Revvity 0 0 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 1 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 1
Institute of Reproductive and Child Health, Peking University 0 0 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 0 0 0 0 1 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 0 1
iDNA Genomics 0 0 0 1 0 0 0 0 1

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