ClinVar Miner

Variants in gene HSPD1

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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 total
4 6 164 122 30 305

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Spastic paraplegia 0 0 91 95 18 204
not provided 1 2 28 22 21 72
Hereditary spastic paraplegia 13 2 1 20 2 14 39
not specified 0 0 8 9 13 28
Hereditary spastic paraplegia 0 0 8 6 7 21
Inborn genetic diseases 0 0 15 0 0 15
Hypomyelinating leukodystrophy 4 1 2 7 1 1 12
HSPD1-related disorder 0 1 1 4 1 7
Hypomyelinating leukodystrophy 4; Hereditary spastic paraplegia 13 0 0 3 1 0 4
Leukodystrophy 1 0 0 0 0 1
Spastic paraplegia, autosomal dominant 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 91 100 18 209
GeneDx 1 1 10 16 24 52
Illumina Laboratory Services, Illumina 0 0 19 2 14 35
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 8 6 7 21
Breakthrough Genomics, Breakthrough Genomics 0 0 1 4 13 18
Ambry Genetics 0 0 15 0 0 15
Athena Diagnostics 0 0 4 1 8 13
CeGaT Center for Human Genetics Tuebingen 0 0 8 5 0 13
PreventionGenetics, part of Exact Sciences 0 1 1 4 1 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 4
OMIM 3 0 0 0 0 3
Baylor Genetics 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 1 2 0 3
Revvity Omics, Revvity 0 0 3 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 1
Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 0 1
3billion 0 0 1 0 0 1

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