ClinVar Miner

Variants studied for Catecholaminergic polymorphic ventricular tachycardia

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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 total
8 23 1795 922 89 2834

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RYR2 5 12 1613 845 80 2552
LOC126806068, RYR2 0 1 101 52 4 158
LOC126806067, RYR2 0 0 52 18 5 75
TRDN 0 5 15 0 0 20
CASQ2 2 4 3 6 0 15
LOC126806066, RYR2 0 0 2 0 0 2
ACTN2, MT1HL1, MTR, RYR2 0 0 1 0 0 1
AKAP9 0 0 0 1 0 1
CACNA1C 0 0 1 0 0 1
CALM1 0 1 0 0 0 1
GABRA1 0 0 1 0 0 1
KLHL8 0 0 1 0 0 1
LOC101927055, TTN 0 0 1 0 0 1
LOC126806067, LOC126806068, MIR4428, RYR2 0 0 1 0 0 1
LOC126806067, LOC126806068, RYR2 0 0 1 0 0 1
LOC129389631, LOC129389632, LOC129389633, TRDN 0 0 1 0 0 1
MYBPC3 0 0 1 0 0 1
TECRL 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
All of Us Research Program, National Institutes of Health 1 0 1725 897 87 2710
Labcorp Genetics (formerly Invitae), Labcorp 3 5 61 22 0 91
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 10 0 0 0 12
Cohesion Phenomics 0 0 0 7 0 7
Lildballe Lab, Aarhus University Hospital 0 5 2 0 0 7
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 1 2 0 1 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 3 1 1 5
Genetics and Genomics Program, Sidra Medicine 1 0 2 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 0 2 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 1 1 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 2 0 0 2
Center for Human Genetics, University of Leuven 0 0 1 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1

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