ClinVar Miner

Variants in gene NTRK1

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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
129 85 504 785 79 10 1398

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary insensitivity to pain with anhidrosis 123 68 406 738 45 10 1255
not provided 9 11 80 75 54 0 213
Inborn genetic diseases 3 6 126 52 1 0 188
not specified 0 0 16 29 18 0 56
Charcot-Marie-Tooth disease 0 0 29 1 0 0 30
NTRK1-related disorder 0 1 3 17 5 0 26
Familial medullary thyroid carcinoma 2 0 11 0 0 0 13
Hereditary insensitivity to pain with anhidrosis; Familial medullary thyroid carcinoma 0 1 3 0 0 0 4
Hereditary cancer 0 0 0 3 0 0 3
Ovarian cancer 0 3 0 0 0 0 3
Hereditary sensory and autonomic neuropathy 0 0 2 0 0 0 2
Intellectual disability 0 0 1 0 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 1
PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1 1 0 0 0 0 0 1
Premature ovarian failure 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 110 30 296 721 38 0 1195
Natera, Inc. 8 2 155 19 13 0 197
Ambry Genetics 3 6 126 52 1 0 188
Genome-Nilou Lab 11 10 74 46 18 0 159
GeneDx 7 8 38 54 49 0 156
Illumina Laboratory Services, Illumina 0 0 54 8 14 0 76
CeGaT Center for Human Genetics Tuebingen 0 0 31 30 4 0 65
Breakthrough Genomics, Breakthrough Genomics 0 0 1 18 23 0 42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 6 12 8 0 0 35
Fulgent Genetics, Fulgent Genetics 8 15 9 1 0 0 33
Inherited Neuropathy Consortium 0 0 32 1 0 0 33
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 10 7 12 0 29
PreventionGenetics, part of Exact Sciences 0 1 3 17 5 0 26
Mendelics 0 1 16 6 0 0 23
Athena Diagnostics 0 0 3 2 13 0 18
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 5 13 0 18
Mayo Clinic Laboratories, Mayo Clinic 0 0 16 0 0 0 16
OMIM 15 0 0 0 0 0 15
Clinical Genetics, Academic Medical Center 2 0 1 2 8 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 9 0 2 0 11
Eurofins Ntd Llc (ga) 0 0 4 0 6 0 10
3billion 4 3 1 2 0 0 10
GeneReviews 1 0 0 0 0 8 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2 0 0 6 0 8
Baylor Genetics 3 1 3 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 2 1 0 1 0 7
Counsyl 0 2 1 1 1 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 4 0 5
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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 0 0 3
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 3 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 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
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
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 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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