ClinVar Miner

Variants in gene DST

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 association not provided total
158 65 2345 1344 294 1 24 4040

Condition and significance breakdown #

Total conditions: 23
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 121 33 1993 1028 145 0 13 3314
not provided 9 13 292 348 170 0 1 803
Inborn genetic diseases 8 1 455 38 0 0 0 502
DST-related disorder 1 4 9 85 17 0 0 116
not specified 0 0 33 19 61 0 0 113
Hereditary sensory and autonomic neuropathy type 6 14 8 32 4 11 0 1 67
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 6 1 7 3 6 0 0 22
Multiple sclerosis 0 7 0 0 0 0 0 7
Congenital myopathy 29 with contractures 6 0 0 0 0 0 0 6
Lethal congenital contracture syndrome 12 4 0 0 0 0 0 0 4
Charcot-Marie-Tooth disease 0 1 1 0 0 0 0 2
Familial cancer of breast 0 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 2 2
Autism spectrum disorder 0 0 0 0 0 1 0 1
Cardiomyopathy; Global developmental delay; Congenital contracture; Hypotonia 1 0 0 0 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 0 1 1
Distal spinal muscular atrophy 0 0 1 0 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 0 1 1
Moyamoya angiopathy 0 1 0 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 56
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 121 29 1992 1026 145 0 0 3313
Ambry Genetics 8 1 455 38 0 0 0 502
GeneDx 4 6 112 164 164 0 0 450
CeGaT Center for Human Genetics Tuebingen 3 2 74 151 6 0 0 236
Mayo Clinic Laboratories, Mayo Clinic 0 1 104 33 52 0 0 190
PreventionGenetics, part of Exact Sciences 0 1 9 85 17 0 0 112
Breakthrough Genomics, Breakthrough Genomics 0 0 24 67 0 0 0 91
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 26 16 2 0 0 47
Clinical Genetics, Academic Medical Center 0 0 10 16 13 0 0 39
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 10 16 3 0 0 29
OMIM 19 0 0 0 0 0 0 19
Baylor Genetics 1 0 13 0 0 0 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 12 0 0 0 12
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 12 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 8 1 1 0 0 11
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 9 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 6 0 0 8
Department of Molecular Biology and Genetics, Acibadem University 0 7 0 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 2 1 0 0 0 7
Revvity Omics, Revvity 3 2 1 0 0 0 0 6
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 5 0 0 0 0 0 5
3billion 3 1 0 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 0 4
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 4 0 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Inherited Neuropathy Consortium 0 1 2 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 0 2
Dasa 1 0 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 2 0 0 0 0 2
Medical Genetics Unit, University of L'Aquila 0 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 1 1 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Human Molecular Lab, Hazara University 0 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.