ClinVar Miner

Variants studied for Hereditary insensitivity to pain with anhidrosis

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
140 99 467 767 50 13 1382

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 136 96 457 755 45 12 1349
LOC129931648, NTRK1 4 3 6 9 0 1 21
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: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 114 33 303 744 38 0 1232
Natera, Inc. 28 38 208 21 13 0 308
Genome-Nilou Lab 11 10 74 46 22 0 163
Illumina Laboratory Services, Illumina 0 0 53 7 14 0 74
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 10 8 12 0 30
Fulgent Genetics, Fulgent Genetics 8 15 6 1 0 0 30
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 5 13 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 6 0 0 0 0 15
Mendelics 0 1 6 6 1 0 14
OMIM 14 0 0 0 0 0 14
3billion 5 3 1 2 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 9 0 2 0 11
GeneReviews 1 0 0 0 0 9 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 3 1 0 1 0 8
Baylor Genetics 3 1 3 0 0 0 7
Counsyl 0 2 3 1 1 0 7
Myriad Genetics, Inc. 6 1 0 0 0 0 7
Revvity Omics, Revvity 3 2 1 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 3 1 0 0 0 5
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 3 1 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
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
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
Centre for Medical Genetics, Mumbai 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Laboratory of Pediatric Research, Suzhou Wujiang District Children's Hospital 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 1
Sfax Medical Genetics Laboratory, Laboratoire Ksentini 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1

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