Health in Code
General information
Personnel
- Mario Torrado, Staff
Phone: +34 981 167000
Email: torrado@udc.es
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 4
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Hypertrophic cardiomyopathy | 2 | Nov 8, 2021 |
Jervell and Lange-Nielsen syndrome 1 | 1 | Oct 28, 2020 |
Marfan syndrome | 1 | Nov 27, 2017 |
Testing in GTR
Disease name | Number of tests |
---|---|
3-Methylglutaconic aciduria type 2 | 1 test |
Acromicric dysplasia | 3 tests |
Adams-Oliver syndrome 5 | 2 tests |
Andersen Tawil syndrome | 1 test |
Aneurysm-osteoarthritis syndrome | 2 tests |
Aortic aneurysm, familial thoracic 4 | 2 tests |
Aortic aneurysm, familial thoracic 6 | 3 tests |
Aortic aneurysm, familial thoracic 7 | 2 tests |
Aortic aneurysm, familial thoracic 8 | 2 tests |
Aortic valve disease 1 | 2 tests |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2 tests |
Arrhythmogenic right ventricular cardiomyopathy | 5 tests |
Arrhythmogenic right ventricular dysplasia 1 | 1 test |
Arrhythmogenic right ventricular dysplasia 10 | 2 tests |
Arrhythmogenic right ventricular dysplasia 11 | 2 tests |
Arrhythmogenic right ventricular dysplasia 12 | 2 tests |
Arrhythmogenic right ventricular dysplasia 13 | 1 test |
Arrhythmogenic right ventricular dysplasia 2 | 2 tests |
Arrhythmogenic right ventricular dysplasia 5 | 3 tests |
Arrhythmogenic right ventricular dysplasia 8 | 2 tests |
Arrhythmogenic right ventricular dysplasia 9 | 2 tests |
Arterial tortuosity syndrome | 2 tests |
Atrial fibrillation | 1 test |
Atrial fibrillation, familial, 1 | 1 test |
Atrial fibrillation, familial, 10 | 2 tests |
Atrial fibrillation, familial, 13 | 1 test |
Atrial fibrillation, familial, 3 | 1 test |
Atrial fibrillation, familial, 4 | 1 test |
Atrial fibrillation, familial, 9 | 1 test |
Atrial septal defect 5 | 1 test |
Atrial septal defect 7 | 2 tests |
Atrioventricular septal defect, susceptibility to, 2 | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 test |
Becker muscular dystrophy | 1 test |
Blepharophimosis - intellectual disability syndrome, MKB type | 1 test |
Brugada syndrome | 2 tests |
Brugada syndrome 1 | 3 tests |
Brugada syndrome 5 | 1 test |
CBL-related disorder | 1 test |
CIDEC-related familial partial lipodystrophy | 1 test |
Cardiac arrhythmia | 5 tests |
Cardiac valvular dysplasia, X-linked | 2 tests |
Cardiofaciocutaneous syndrome 1 | 2 tests |
Cardiofaciocutaneous syndrome 2 | 3 tests |
Cardiofaciocutaneous syndrome 3 | 2 tests |
Cardiofaciocutaneous syndrome 4 | 2 tests |
Cardiomyopathy | 1 test |
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2 tests |
Cardiomyopathy, familial restrictive, 1 | 1 test |
Cardiomyopathy, familial restrictive, 3 | 1 test |
Carpal tunnel syndrome | 1 test |
Catecholaminergic polymorphic ventricular tachycardia | 1 test |
Catecholaminergic polymorphic ventricular tachycardia 1 | 3 tests |
Catecholaminergic polymorphic ventricular tachycardia 2 | 2 tests |
Charcot-Marie-Tooth disease type 2B1 | 2 tests |
Chylomicron retention disease | 1 test |
Classic homocystinuria | 2 tests |
Conduction disorder of the heart | 2 tests |
Congenital aneurysm of ascending aorta | 1 test |
Congenital contractural arachnodactyly | 2 tests |
Congenital generalized lipodystrophy type 1 | 1 test |
Congenital generalized lipodystrophy type 2 | 1 test |
Congenital generalized lipodystrophy type 3 | 1 test |
Congenital generalized lipodystrophy type 4 | 1 test |
Congenital heart disease | 2 tests |
Congenital muscular dystrophy due to LMNA mutation | 2 tests |
Conotruncal heart malformations | 2 tests |
Costello syndrome | 4 tests |
Cutis laxa, autosomal dominant 1 | 2 tests |
Cutis laxa, autosomal recessive, type 1B | 1 test |
Desmin-related myofibrillar myopathy | 2 tests |
Dilated cardiomyopathy 1A | 2 tests |
Dilated cardiomyopathy 1BB | 2 tests |
Dilated cardiomyopathy 1C | 2 tests |
Dilated cardiomyopathy 1D | 1 test |
Dilated cardiomyopathy 1E | 2 tests |
Dilated cardiomyopathy 1FF | 1 test |
Dilated cardiomyopathy 1G | 1 test |
Dilated cardiomyopathy 1I | 2 tests |
Dilated cardiomyopathy 1NN | 1 test |
Dilated cardiomyopathy 1P | 2 tests |
Dilated cardiomyopathy 1R | 1 test |
Dilated cardiomyopathy 1S | 1 test |
Dilated cardiomyopathy 1Y | 1 test |
Dilated cardiomyopathy 1Z | 1 test |
Dilated cardiomyopathy 2A | 1 test |
Dilated cardiomyopathy 3B | 1 test |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 2 tests |
Distal myopathy with posterior leg and anterior hand involvement | 1 test |
Distal myopathy, Tateyama type | 1 test |
Doyne honeycomb retinal dystrophy | 1 test |
Duchenne muscular dystrophy | 1 test |
Early repolarization associated with ventricular fibrillation | 1 test |
Early-onset myopathy with fatal cardiomyopathy | 1 test |
Ectopia lentis 1, isolated, autosomal dominant | 3 tests |
Ectopia lentis 2, isolated, autosomal recessive | 2 tests |
Ectopia lentis et pupillae | 2 tests |
Ehlers-Danlos syndrome, arthrochalasis type | 2 tests |
Ehlers-Danlos syndrome, cardiac valvular type | 2 tests |
Ehlers-Danlos syndrome, classic type | 2 tests |
Ehlers-Danlos syndrome, classic type, 1 | 1 test |
Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2 tests |
Ehlers-Danlos syndrome, type 3 | 2 tests |
Ehlers-Danlos syndrome, type 4 | 2 tests |
Elevated circulating creatine kinase concentration | 1 test |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 tests |
Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 2 tests |
Epidermal nevus | 1 test |
FG syndrome 1 | 1 test |
FG syndrome 2 | 2 tests |
Fabry disease | 2 tests |
Familial amyloid neuropathy | 2 tests |
Familial hypobetalipoproteinemia | 1 test |
Familial partial lipodystrophy | 1 test |
Familial partial lipodystrophy, Dunnigan type | 3 tests |
Familial restrictive cardiomyopathy | 4 tests |
Fibromatosis, gingival, 1 | 2 tests |
Fish-eye disease | 1 test |
Frontometaphyseal dysplasia 1 | 2 tests |
Geleophysic dysplasia 2 | 3 tests |
Generalized epilepsy with febrile seizures plus, type 1 | 1 test |
Geroderma osteodysplastica | 1 test |
Glycogen storage disease, type II | 3 tests |
Heart-hand syndrome, Slovenian type | 2 tests |
Heterotopia, periventricular, X-linked dominant | 2 tests |
Hutchinson-Gilford syndrome | 2 tests |
Hypercholesterolemia, familial, 1 | 5 tests |
Hyperthyroxinemia, dystransthyretinemic | 1 test |
Hypertriglyceridemia 1 | 1 test |
Hypertrophic cardiomyopathy 1 | 4 tests |
Hypertrophic cardiomyopathy 10 | 1 test |
Hypertrophic cardiomyopathy 11 | 1 test |
Hypertrophic cardiomyopathy 13 | 1 test |
Hypertrophic cardiomyopathy 18 | 2 tests |
Hypertrophic cardiomyopathy 2 | 1 test |
Hypertrophic cardiomyopathy 3 | 1 test |
Hypertrophic cardiomyopathy 4 | 1 test |
Hypertrophic cardiomyopathy 6 | 1 test |
Hypertrophic cardiomyopathy 7 | 1 test |
Hypertrophic cardiomyopathy 8 | 1 test |
Hypertrophic cardiomyopathy 9 | 1 test |
Hypoplastic left heart syndrome 2 | 2 tests |
Hypothyroidism, congenital, nongoitrous, 5 | 2 tests |
Insulin-resistant diabetes mellitus | 1 test |
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 2 tests |
Jervell and Lange-Nielsen syndrome 1 | 1 test |
Jervell and Lange-Nielsen syndrome 2 | 1 test |
Juvenile myelomonocytic leukemia | 2 tests |
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 2 tests |
Keratosis palmoplantaris striata 2 | 2 tests |
LEOPARD syndrome 1 | 4 tests |
LEOPARD syndrome 2 | 1 test |
LEOPARD syndrome 3 | 2 tests |
Large congenital melanocytic nevus | 1 test |
Larsen-like syndrome, B3GAT3 type | 1 test |
Left ventricular noncompaction | 5 tests |
Left ventricular noncompaction 1 | 1 test |
Left ventricular noncompaction 10 | 1 test |
Legius syndrome | 1 test |
Lethal acantholytic epidermolysis bullosa | 2 tests |
Lethal congenital glycogen storage disease of heart | 1 test |
Lethal tight skin contracture syndrome | 3 tests |
Linear nevus sebaceous syndrome | 4 tests |
Loeys-Dietz syndrome | 1 test |
Loeys-Dietz syndrome 1 | 3 tests |
Loeys-Dietz syndrome 2 | 3 tests |
Loeys-Dietz syndrome 4 | 2 tests |
Long QT syndrome | 8 tests |
Long QT syndrome 1 | 1 test |
Long QT syndrome 10 | 1 test |
Long QT syndrome 2 | 1 test |
Long QT syndrome 3 | 2 tests |
Long QT syndrome 5 | 1 test |
Long QT syndrome 6 | 1 test |
Long QT syndrome 9 | 1 test |
MASS syndrome | 3 tests |
MYH7-related skeletal myopathy | 1 test |
Macular degeneration, early-onset | 2 tests |
Mandibuloacral dysplasia with type A lipodystrophy | 2 tests |
Mandibuloacral dysplasia with type B lipodystrophy | 1 test |
Marfan syndrome | 3 tests |
Maturity-onset diabetes of the young type 2 | 1 test |
Melnick-Needles syndrome | 2 tests |
Metachondromatosis | 2 tests |
Methylcobalamin deficiency type cblE | 1 test |
Moyamoya disease 5 | 3 tests |
Multisystemic smooth muscle dysfunction syndrome | 3 tests |
Myhre syndrome | 2 tests |
Myofibrillar myopathy 4 | 2 tests |
Myofibrillar myopathy 5 | 1 test |
Myopathy | 2 tests |
Myopathy, myofibrillar, 9, with early respiratory failure | 1 test |
Myosin storage myopathy | 1 test |
Naxos disease | 2 tests |
Neurocutaneous melanocytosis | 1 test |
Neurogenic scapuloperoneal syndrome, Kaeser type | 2 tests |
Noonan syndrome 1 | 4 tests |
Noonan syndrome 3 | 3 tests |
Noonan syndrome 4 | 2 tests |
Noonan syndrome 5 | 1 test |
Noonan syndrome 6 | 1 test |
Noonan syndrome 7 | 2 tests |
Noonan syndrome-like disorder with loose anagen hair 1 | 1 test |
Osteogenesis imperfecta type I | 2 tests |
Osteogenesis imperfecta type III | 2 tests |
Osteogenesis imperfecta with normal sclerae, dominant form | 2 tests |
Osteogenesis imperfecta, recessive perinatal lethal | 2 tests |
Oto-palato-digital syndrome, type I | 2 tests |
Oto-palato-digital syndrome, type II | 2 tests |
PLIN1-related familial partial lipodystrophy | 1 test |
PPARG-related familial partial lipodystrophy | 1 test |
Primary dilated cardiomyopathy | 17 tests |
Primary familial hypertrophic cardiomyopathy | 8 tests |
Progressive familial heart block, type 1A | 2 tests |
Pulmonary hypertension, primary, 1 | 4 tests |
Pulmonary venoocclusive disease 1 | 1 test |
RASopathy | 1 test |
Rienhoff syndrome | 3 tests |
Rippling muscle disease 2 | 1 test |
SUDDEN INFANT DEATH SYNDROME | 2 tests |
Short QT syndrome | 2 tests |
Short QT syndrome type 1 | 1 test |
Short QT syndrome type 2 | 1 test |
Short QT syndrome type 3 | 1 test |
Shprintzen-Goldberg syndrome | 2 tests |
Sick sinus syndrome 1 | 2 tests |
Stiff skin syndrome | 1 test |
Sudden cardiac death | 3 tests |
Supravalvar aortic stenosis | 2 tests |
Syndromic X-linked intellectual disability Raymond type | 1 test |
Tangier disease | 1 test |
Telangiectasia, hereditary hemorrhagic, type 1 | 2 tests |
Terminal osseous dysplasia-pigmentary defects syndrome | 2 tests |
Tetralogy of Fallot | 2 tests |
Tibial muscular dystrophy | 1 test |
Timothy syndrome | 1 test |
Ventricular fibrillation, paroxysmal familial, type 1 | 2 tests |
Ventricular septal defect 3 | 2 tests |
Weill-Marchesani syndrome 2, dominant | 3 tests |
Wolff-Parkinson-White pattern | 1 test |
Woolly hair-skin fragility syndrome | 2 tests |
Wrinkly skin syndrome | 1 test |
X-linked intellectual disability with marfanoid habitus | 1 test |