ClinVar Miner

Variants in gene DST

See also:
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 association not provided total
118 41 2241 1202 287 1 6 3732

Condition and significance breakdown #

Total conditions: 13
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 93 24 1907 938 142 0 6 3100
not provided 7 10 144 263 169 0 0 583
Inborn genetic diseases 8 1 444 30 0 0 0 483
Hereditary sensory and autonomic neuropathy type 6 10 4 93 18 15 0 0 136
DST-related condition 0 0 8 69 17 0 0 94
not specified 0 0 10 1 15 0 0 26
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 4 1 7 2 6 0 0 19
Charcot-Marie-Tooth disease 0 1 1 0 0 0 0 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
Distal spinal muscular atrophy 0 0 1 0 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 0 1
Moyamoya angiopathy 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 93 24 1907 937 142 0 0 3103
Ambry Genetics 8 1 444 30 0 0 0 483
GeneDx 4 6 47 163 164 0 0 384
CeGaT Center for Human Genetics Tuebingen 1 2 50 94 5 0 0 152
Illumina Laboratory Services, Illumina 0 0 75 16 6 0 0 97
PreventionGenetics, part of Exact Sciences 0 0 8 69 17 0 0 94
Mayo Clinic Laboratories, Mayo Clinic 0 0 58 0 0 0 0 58
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
Baylor Genetics 0 0 13 0 0 0 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 12 0 0 0 12
OMIM 9 0 0 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 6 0 0 8
Genome-Nilou Lab 0 0 0 0 7 0 0 7
Revvity Omics, Revvity 3 1 1 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 5 5
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
3billion 3 1 0 0 0 0 0 4
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 4 0 0 0 0 4
Inherited Neuropathy Consortium 0 1 2 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 2 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 1 1 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 1 0 0 2
Medical Genetics Unit, University of L'Aquila 0 2 0 0 0 0 0 2
Eurofins Ntd Llc (ga) 0 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Breda Genetics srl 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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.