ClinVar Miner

Variants in gene DDHD1

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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
24 6 252 185 56 1 500

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary spastic paraplegia 28 22 4 171 138 26 0 361
not provided 2 2 35 49 39 1 126
Inborn genetic diseases 0 0 76 1 0 0 77
Hereditary spastic paraplegia 1 0 20 4 3 0 28
not specified 0 0 1 15 8 0 24
DDHD1-related disorder 0 0 1 7 0 0 8
Spasticity 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 14 0 168 139 25 0 346
GeneDx 0 2 15 44 39 0 100
Ambry Genetics 0 0 76 1 0 0 77
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 0 20 4 3 0 28
CeGaT Center for Human Genetics Tuebingen 1 0 4 19 0 0 24
Breakthrough Genomics, Breakthrough Genomics 0 0 0 5 16 0 21
Mayo Clinic Laboratories, Mayo Clinic 0 0 15 0 0 0 15
PreventionGenetics, part of Exact Sciences 0 0 1 7 0 0 8
Genome-Nilou Lab 0 0 0 0 6 0 6
OMIM 4 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Bionano Laboratories 0 0 3 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 3 0 3
Paris Brain Institute, Inserm - ICM 3 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1

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