ClinVar Miner

Variants studied for Catecholaminergic polymorphic ventricular tachycardia 1

Coded as:
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
150 136 2957 2890 291 9 6305

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 78 99 2169 2111 210 7 4558
TRDN 27 9 425 383 47 1 890
CASQ2 35 15 160 236 19 0 464
LOC126806068, RYR2 10 10 126 106 6 1 254
LOC126806067, RYR2 0 0 60 54 5 0 115
CASQ2, VANGL1 0 0 0 0 4 0 4
ACTN2, MT1HL1, MTR, RYR2 0 0 2 0 0 0 2
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: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 139 92 2805 2858 259 0 6153
Illumina Laboratory Services, Illumina 0 0 139 53 89 0 281
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 15 15 0 0 0 33
Blueprint Genetics 1 13 15 0 0 0 29
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 6 7 1 0 0 23
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
Mendelics 0 0 2 1 3 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 6 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 2 0 4
GeneReviews 0 0 0 0 0 4 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Center for Medical Genetics Ghent, University of Ghent 1 2 0 0 0 0 3
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 3 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 1 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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