ClinVar Miner

Variants in gene HTT

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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 other total
7 3 260 330 82 2 667

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
not provided 3 2 236 302 76 0 607
HTT-related disorder 0 0 0 28 5 0 33
Lopes-Maciel-Rodan syndrome 4 0 11 0 1 0 15
not specified 0 0 8 3 1 0 12
Huntington disease 0 1 4 0 1 2 8
Inborn genetic diseases 0 0 5 0 0 0 5
Huntington disease; Lopes-Maciel-Rodan syndrome 0 0 1 2 0 0 3
Cerebral palsy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Labcorp Genetics (formerly Invitae), Labcorp 3 2 225 287 76 0 593
Breakthrough Genomics, Breakthrough Genomics 0 0 7 9 45 0 61
CeGaT Center for Human Genetics Tuebingen 0 0 14 25 2 0 41
PreventionGenetics, part of Exact Sciences 0 0 0 28 5 0 33
Baylor Genetics 0 0 8 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 3 0 0 8
GeneDx 0 0 4 0 1 0 5
Ambry Genetics 0 0 5 0 0 0 5
OMIM 4 0 0 0 0 0 4
American College of Medical Genetics and Genomics (ACMG) 0 0 0 0 1 2 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
H3Africa Consortium 0 0 0 0 1 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1

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