ClinVar Miner

Variants in gene HCN1

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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
15 5 188 133 29 345

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Early infantile epileptic encephalopathy with suppression bursts 3 1 132 92 18 246
not provided 1 1 28 29 15 73
History of neurodevelopmental disorder 0 0 8 22 2 32
Epileptic encephalopathy, early infantile, 24 7 2 8 2 0 18
See cases 0 0 11 2 0 13
not specified 0 0 1 5 7 12
Generalized epilepsy with febrile seizures plus, type 10 6 0 1 0 0 7
Intellectual disability 0 0 3 2 0 5
Inborn genetic diseases 0 0 4 0 0 4
Epileptic encephalopathy 0 2 0 0 0 2
Hypomyelinating leukodystrophy 7 1 0 0 0 0 1
Neurodevelopmental abnormality 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 1 132 110 21 267
Ambry Genetics 0 0 12 22 2 36
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 13 5 6 24
OMIM 13 0 0 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 11 2 0 13
Athena Diagnostics Inc 0 0 1 0 7 8
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 7 7
ISCA site 1 0 0 7 0 0 7
GeneDx 1 1 2 1 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 4
Baylor Genetics 0 0 3 0 0 3
Mendelics 0 0 0 2 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
ISCA site 4 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 0 2 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 2 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 0 1 0 1
Lineagen, Inc 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 1
ISCA site 6 0 0 1 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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