ClinVar Miner

Variants studied for Hereditary insensitivity to pain with anhidrosis

Coded as:
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
117 50 401 716 49 11 1224

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
NTRK1 114 48 392 705 44 10 1195
LOC129931648, NTRK1 3 2 5 8 0 1 17
INSRR, NTRK1 0 0 4 3 1 0 8
NTRK1, SH2D2A 0 0 0 0 3 0 3
HAX1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 105 27 294 696 38 0 1160
Natera, Inc. 8 2 159 19 13 0 201
Genome-Nilou Lab 11 10 74 46 22 0 163
Illumina Laboratory Services, Illumina 0 0 56 8 14 0 78
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 8 12 0 23
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 5 12 0 17
OMIM 14 0 0 0 0 0 14
Mendelics 0 1 6 6 1 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 3 0 0 0 0 11
GeneReviews 1 0 0 0 0 9 10
Fulgent Genetics, Fulgent Genetics 1 0 6 1 0 0 8
Baylor Genetics 3 1 3 0 0 0 7
Counsyl 0 2 3 1 1 0 7
3billion 3 3 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 2 0 0 0 0 5
Revvity Omics, Revvity 2 1 1 0 0 0 4
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 3 1 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1 0 2
Pars Genome Lab 0 0 1 1 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 1 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratory of Pediatric Research, Suzhou Wujiang District Children's Hospital 0 1 0 0 0 0 1

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