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
56 22 307 227 39 1 568

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary insensitivity to pain with anhidrosis 53 15 264 188 27 1 492
not provided 4 3 22 41 17 0 85
not specified 0 0 5 31 17 0 48
Charcot-Marie-Tooth disease 0 0 29 1 0 0 30
Familial medullary thyroid carcinoma 2 0 17 0 0 0 19
Hereditary insensitivity to pain with anhidrosis; Familial medullary thyroid carcinoma 0 1 3 0 0 0 4
Inborn genetic diseases 1 2 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
Premature ovarian failure 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 34 10 180 196 21 0 441
Natera, Inc. 3 0 80 6 10 0 99
Illumina Clinical Services Laboratory,Illumina 0 0 56 8 14 0 78
GeneDx 4 2 13 31 20 0 70
Inherited Neuropathy Consortium 0 0 32 1 0 0 33
Mendelics 0 1 17 4 0 0 22
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 4 9 0 17
OMIM 16 0 0 0 0 0 16
Athena Diagnostics Inc 0 0 3 1 9 0 13
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 0 7 0 12
GeneReviews 6 0 0 0 2 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 6 0 0 8
Baylor Genetics 3 1 3 0 0 0 7
Counsyl 0 2 1 1 1 0 5
Ambry Genetics 1 2 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Pars Genome Lab 0 0 1 1 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 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
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 1 0 0 0 0 1

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