ClinVar Miner

Variants studied for Catecholaminergic polymorphic ventricular tachycardia 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
199 178 3729 3814 315 9 8092

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RYR2 103 128 2808 2762 223 7 5894
TRDN 36 15 440 560 56 1 1105
CASQ2 46 18 215 285 24 0 587
LOC126806068, RYR2 14 14 169 133 7 1 331
LOC126806067, RYR2 0 0 77 74 5 0 152
ACTN2, MT1HL1, MTR, RYR2 0 0 5 0 0 0 5
ANK2 0 1 1 0 0 0 2
CALM1 0 2 0 0 0 0 2
MYBPC3 0 0 2 0 0 0 2
SCN5A 0 0 2 0 0 0 2
ATP1A1, CASQ2, LINC01649, MAB21L3, NHLH2, SLC22A15 0 0 1 0 0 0 1
DMPK 0 0 1 0 0 0 1
DSG2 0 0 1 0 0 0 1
DSP 0 0 1 0 0 0 1
KCNH2 0 0 1 0 0 0 1
LAMA4 0 0 1 0 0 0 1
LMNA 0 0 1 0 0 0 1
LOC129389631, TRDN 0 0 1 0 0 0 1
SCN4B 0 0 1 0 0 0 1
TRPM4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 183 111 3564 3781 283 0 7922
Illumina Laboratory Services, Illumina 0 0 138 53 89 0 280
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 11 13 2 0 0 38
MVZ Martinsried, Medicover Genetics 4 15 15 0 0 0 34
Blueprint Genetics 1 13 15 0 0 0 29
Genome-Nilou Lab 0 0 0 0 23 0 23
3billion 1 3 7 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 4 0 0 0 0 11
OMIM 10 0 0 0 0 0 10
Baylor Genetics 0 4 5 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 7 0 0 0 9
MVZ Medizinische Genetik Mainz 0 0 7 0 0 0 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 6 0 0 0 6
Mendelics 0 0 2 1 3 0 6
Clinical Genomics Laboratory, Stanford Medicine 0 0 5 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 0 0 0 5
KardioGenetik, Herz- und Diabeteszentrum NRW 1 2 2 0 0 0 5
Molecular Genetics Laboratory, Motol Hospital 0 5 0 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 2 0 4
Center for Medical Genetics Ghent, University of Ghent 1 2 0 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 0 3 0 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 2 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Variantyx, Inc. 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Laboratory Medicine and Genetics, Samsung Medical Center 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1

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