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
13 18 51 4 2 1 87

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 13 14 34 4 2 1 66
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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Blueprint Genetics 1 13 16 0 0 0 30
Fulgent Genetics,Fulgent Genetics 1 0 16 0 0 0 17
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 8 0 0 0 10
OMIM 9 0 0 0 0 0 9
Division of Genomic Diagnostics,The 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
Invitae 0 0 1 1 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 1 1 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
Mayo Clinic Genetic Testing 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
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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