ClinVar Miner

Variants studied for catecholaminergic polymorphic ventricular tachycardia 1

Included ClinVar conditions (3):
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
14 30 211 56 92 2 399

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RYR2 14 26 194 56 92 2 378
CASQ2 0 1 3 0 0 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
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
SCN4B 0 0 1 0 0 0 1
TPM1 0 0 1 0 0 0 1
TRPM4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 139 53 89 0 281
Blueprint Genetics 1 13 16 0 0 0 30
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 12 15 0 0 0 29
Fulgent Genetics,Fulgent Genetics 1 0 16 0 0 0 17
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 7 0 0 0 9
OMIM 8 0 0 0 0 0 8
Mendelics 0 0 3 1 2 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 4 0 0 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 4 0 0 0 4
Center for Medical Genetics Ghent,University of Ghent 1 2 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
Phosphorus, Inc. 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Genetics 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 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 North-West 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

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