ClinVar Miner

Variants in gene HCN1

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 not provided total
27 27 594 453 48 1 1071

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy 11 4 367 393 31 0 806
not provided 3 7 197 51 22 0 269
Inborn genetic diseases 0 1 59 58 7 0 125
Developmental and epileptic encephalopathy, 24 11 6 20 2 0 0 37
Generalized epilepsy with febrile seizures plus, type 10 8 5 13 0 0 0 26
HCN1-related disorder 0 1 10 12 3 0 26
not specified 0 0 4 10 9 0 22
Developmental and epileptic encephalopathy, 24; Generalized epilepsy with febrile seizures plus, type 10 0 2 8 3 0 1 13
See cases 0 0 5 0 0 0 5
Intellectual disability 0 0 2 2 0 0 4
Seizure 0 0 3 0 0 0 3
Epileptic encephalopathy 0 2 0 0 0 0 2
MISSED ABORTION 0 0 1 0 0 0 1
Neurodevelopmental abnormality 0 0 1 0 0 0 1
Seizure; Febrile seizure (within the age range of 3 months to 6 years); Color vision defect 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 11 4 367 395 31 0 808
GeneDx 3 4 128 15 21 0 171
Ambry Genetics 0 1 59 58 7 0 125
CeGaT Center for Human Genetics Tuebingen 0 3 30 32 1 0 66
PreventionGenetics, part of Exact Sciences 0 0 10 12 3 0 25
Eurofins Ntd Llc (ga) 0 0 13 5 6 0 24
OMIM 14 0 0 0 0 0 14
Revvity Omics, Revvity 0 0 12 0 0 0 12
Athena Diagnostics 0 0 2 0 8 0 10
Breakthrough Genomics, Breakthrough Genomics 0 0 1 6 3 0 10
Department of Neurology, Hunan Children's Hospital 3 1 4 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 5 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 2 1 4 0 0 0 7
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 6 0 0 0 6
Diagnostic Laboratory, Strasbourg University Hospital 0 0 5 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 3 1 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 5
Baylor Genetics 0 0 4 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 1 0 4
ISCA site 1 0 0 4 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 2 0 3
Mendelics 0 0 1 2 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 0 2 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
ISCA Site 6 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 1 0 1
Epilepsy and Neurogenetic Laboratory, Kaohsiung Chang Gung Memorial Hospital 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
3billion 0 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1

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