ClinVar Miner

Variants in gene DST

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Minimum submission review status: Collection method:
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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
144 57 2336 1289 290 1 8 3923

Condition and significance breakdown #

Total conditions: 14
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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 116 28 1954 999 144 0 6 3237
not provided 8 10 243 303 170 0 1 712
Inborn genetic diseases 8 1 455 38 0 0 0 502
Hereditary sensory and autonomic neuropathy type 6 13 7 104 19 15 0 1 154
DST-related disorder 1 2 9 85 17 0 0 114
not specified 0 0 21 8 16 0 0 45
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 6 1 7 2 6 0 0 21
Multiple sclerosis 0 7 0 0 0 0 0 7
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: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 116 28 1953 997 144 0 0 3238
Ambry Genetics 8 1 455 38 0 0 0 502
GeneDx 4 6 91 164 164 0 0 429
CeGaT Center for Human Genetics Tuebingen 2 2 62 121 6 0 0 193
PreventionGenetics, part of Exact Sciences 0 1 9 85 17 0 0 112
Illumina Laboratory Services, Illumina 0 0 75 16 6 0 0 97
Breakthrough Genomics, Breakthrough Genomics 0 0 24 67 0 0 0 91
Mayo Clinic Laboratories, Mayo Clinic 0 0 85 0 0 0 0 85
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 14 7 1 0 0 25
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 8 1 1 0 0 11
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
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 0 0 0 0 6
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
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 0 2
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
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
Juno Genomics, Hangzhou Juno Genomics, Inc 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
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
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 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
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 0 1

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