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
126 70 415 750 50 11 1285

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 123 68 406 738 45 10 1255
LOC129931648, NTRK1 3 2 5 9 0 1 18
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: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 111 31 298 728 38 0 1206
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 55 8 14 0 77
Fulgent Genetics, Fulgent Genetics 8 15 6 1 0 0 30
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 8 8 12 0 28
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
OMIM 14 0 0 0 0 0 14
Mendelics 0 1 6 6 1 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 9 0 2 0 11
GeneReviews 1 0 0 0 0 9 10
3billion 4 3 1 2 0 0 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
Neuberg Centre For Genomic Medicine, NCGM 1 3 1 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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 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
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1

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