ClinVar Miner

Variants studied for Catecholaminergic polymorphic ventricular tachycardia 1

Coded as:
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
182 160 3320 3407 302 9 7239

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RYR2 94 116 2497 2479 215 7 5280
TRDN 32 14 422 474 51 1 992
CASQ2 44 15 166 264 20 0 508
LOC126806068, RYR2 12 12 149 121 7 1 296
LOC126806067, RYR2 0 0 66 69 5 0 136
ACTN2, MT1HL1, MTR, RYR2 0 0 5 0 0 0 5
CASQ2, VANGL1 0 0 0 0 4 0 4
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: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 168 103 3161 3375 270 0 7077
Illumina Laboratory Services, Illumina 0 0 138 53 89 0 280
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 4 15 15 0 0 0 34
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 9 13 2 0 0 34
Blueprint Genetics 1 13 15 0 0 0 29
Genome-Nilou Lab 0 0 0 0 23 0 23
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 4 0 0 0 0 8
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 6 0 0 0 6
MVZ Medizinische Genetik Mainz 0 0 6 0 0 0 6
Mendelics 0 0 2 1 3 0 6
Molecular Genetics Laboratory, Motol Hospital 0 5 0 0 0 0 5
3billion 0 1 3 0 0 0 4
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
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 0 0 4
Center for Medical Genetics Ghent, University of Ghent 1 2 0 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 0 0 3 0 0 0 3
KardioGenetik, Herz- und Diabeteszentrum NRW 1 1 1 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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 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
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 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
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Intergen, 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 Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 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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