ClinVar Miner

Variants in gene DST

Minimum submission review status: Collection method:
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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 total
14 12 326 166 89 549

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 9 2 232 14 5 262
not provided 3 5 28 133 73 229
Neuropathy, hereditary sensory and autonomic, type VI 2 4 78 18 12 112
not specified 0 0 6 2 0 8
Epidermolysis bullosa simplex, autosomal recessive 2 2 0 1 0 0 3
Charcot-Marie-Tooth disease 0 1 1 0 0 2
Distal spinal muscular atrophy 0 0 1 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 2 232 146 78 467
Illumina Clinical Services Laboratory,Illumina 0 0 74 16 6 96
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 26 0 0 28
GeneDx 3 3 6 2 0 14
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 6 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 3 2 2 7
OMIM 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 3
Inherited Neuropathy Consortium 0 1 2 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 2 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 1 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Medical Genetics Unit,University of L'Aquila 0 2 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 1

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