ClinVar Miner

Variants studied for ataxia neuropathy spectrum

Included ClinVar conditions (8):
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
16 7 180 48 43 3 295

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRICKLE2 2 0 105 44 14 0 164
TWNK 1 0 38 3 29 0 71
POLG 13 7 35 0 0 3 57
FANCI, POLG 0 0 2 1 0 0 3

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 103 44 13 0 160
Illumina Clinical Services Laboratory,Illumina 0 0 38 3 29 0 70
Fulgent Genetics,Fulgent Genetics 4 1 24 1 0 0 30
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 11 0 0 0 13
OMIM 6 0 2 0 0 0 8
Institute of Human Genetics, Klinikum rechts der Isar 4 1 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Institute of Human Genetics,Cologne University 1 1 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
GenomeConnect - GM1 0 0 0 0 0 1 1

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