ClinVar Miner

Variants in gene HCN1

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
25 21 476 412 53 1 921

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early infantile epileptic encephalopathy with suppression bursts 10 4 316 362 30 0 722
not provided 2 5 130 40 30 0 197
Inborn genetic diseases 0 1 39 53 5 0 98
Developmental and epileptic encephalopathy, 24 10 6 10 2 0 0 26
HCN1-related condition 0 0 6 12 3 0 21
Generalized epilepsy with febrile seizures plus, type 10 8 3 9 0 0 0 20
not specified 0 0 2 6 8 0 15
Developmental and epileptic encephalopathy, 24; Generalized epilepsy with febrile seizures plus, type 10 0 0 7 2 0 1 9
Intellectual disability 0 0 3 2 0 0 5
See cases 0 0 5 0 0 0 5
Seizure 0 0 3 0 0 0 3
Epileptic encephalopathy 0 2 0 0 0 0 2
HCN1-Related disorders 0 1 0 0 0 0 1
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: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 4 316 364 30 0 724
GeneDx 2 2 68 15 21 0 108
Ambry Genetics 0 1 39 53 5 0 98
CeGaT Center for Human Genetics Tuebingen 0 3 24 22 5 0 54
Eurofins Ntd Llc (ga) 0 0 13 5 6 0 24
PreventionGenetics, part of Exact Sciences 0 0 6 12 3 0 21
OMIM 14 0 0 0 0 0 14
Revvity Omics, Revvity 0 0 12 0 0 0 12
Athena Diagnostics Inc 0 0 2 0 7 0 9
Department of Neurology, Hunan Children's Hospital 3 1 4 0 0 0 8
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 7 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
Institute of Human Genetics, University of Leipzig Medical Center 1 1 3 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
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
Mendelics 0 0 1 2 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 0 2 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
Department of Laboratory Medicine, Yonsei University College of Medicine 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 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
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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 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

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