ClinVar Miner

Variants studied for ataxia neuropathy spectrum

Included ClinVar conditions (13):
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
24 12 359 160 59 8 616

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRICKLE2 2 0 238 146 21 0 406
POLG, POLGARF 22 11 80 11 5 7 131
TWNK 0 1 39 3 29 1 73
FANCI, POLG, POLGARF 0 0 2 0 3 0 5
MIR6766, POLG, POLGARF 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 236 146 21 0 403
Fulgent Genetics, Fulgent Genetics 9 4 70 10 3 0 96
Illumina Laboratory Services, Illumina 0 0 38 3 29 0 70
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 11 1 0 0 14
OMIM 6 0 2 0 0 0 8
Genome-Nilou Lab 0 0 0 0 5 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 0 4
Baylor Genetics 3 0 0 0 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 3 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 0 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 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
SIB Swiss Institute of Bioinformatics 1 0 0 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1

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