ClinVar Miner

Variants studied for catecholaminergic polymorphic ventricular tachycardia 2

Included ClinVar conditions (2):
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 not provided total
6 21 128 37 34 4 215

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CASQ2 6 20 128 34 26 4 206
CASQ2, VANGL1 0 0 0 3 8 0 8
RYR2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 1 16 87 35 23 0 162
Illumina Laboratory Services, Illumina 0 0 47 3 13 0 63
Fulgent Genetics, Fulgent Genetics 2 7 42 3 2 0 56
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 2 10 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 11 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 5 0 7
Revvity Omics, Revvity 0 2 5 0 0 0 7
GeneReviews 0 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
OMIM 3 0 0 0 0 0 3
Center for Human Genetics, University of Leuven 0 3 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 3 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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