ClinVar Miner

Variants studied for KCNH1 associated disorder

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
15 4 18 4 3 42

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KCNH1 14 4 18 4 3 41
ATP6V1B2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 8 0 0 0 0 8
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità 7 0 0 0 0 7
Fulgent Genetics, Fulgent Genetics 1 0 0 3 1 5
Institute of Human Genetics, University of Leipzig Medical Center 3 1 2 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 4
Baylor Genetics 0 1 2 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Dept of Pediatrics, Guizhou Children's Hospital, Affiliated Hospital of Zunyi Medical University 0 1 1 0 0 2
Institute of Human Genetics, Cologne University 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 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, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Solve-RD Consortium 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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