ClinVar Miner

Variants in gene DST

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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 total
44 18 1048 320 91 1 1454

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association total
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 36 6 955 268 77 0 1342
Neuropathy, hereditary sensory and autonomic, type VI 3 3 83 18 13 0 118
not provided 3 6 37 56 1 0 101
not specified 0 0 7 2 1 0 10
Epidermolysis bullosa simplex, autosomal recessive 2 4 1 3 0 0 0 7
Charcot-Marie-Tooth disease 0 1 1 0 0 0 2
Autism spectrum disorder 0 0 0 0 0 1 1
Distal spinal muscular atrophy 0 0 1 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 1
Moyamoya angiopathy 0 1 0 0 0 0 1
none provided 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Invitae 36 6 955 297 78 0 1372
Illumina Clinical Services Laboratory,Illumina 0 0 74 16 6 0 96
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 34 6 0 0 42
GeneDx 3 3 6 2 0 0 14
Baylor Genetics 3 0 7 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 6 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 3 2 2 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
OMIM 3 0 0 0 0 0 3
Inherited Neuropathy Consortium 0 1 2 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 1 1 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 1 0 2
Medical Genetics Unit,University of L'Aquila 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 1

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