ClinVar Miner

Variants studied for Catecholaminergic polymorphic ventricular tachycardia

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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
26 26 689 350 126 1130

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RYR2 12 19 520 269 93 839
TRDN 12 3 105 43 21 176
CASQ2 2 3 61 17 8 88
CASQ2, VANGL1 0 0 0 21 4 23
ACTN2, MT1HL1, MTR, RYR2 0 0 1 0 0 1
CALM1 0 1 0 0 0 1
MIR4428, RYR2 0 0 1 0 0 1
MYBPC3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 25 19 488 233 113 878
Illumina Clinical Services Laboratory,Illumina 0 0 209 117 13 339
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 6 0 0 0 8
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 3 1 1 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 4 0 0 4
Center for Human Genetics,University of Leuven 0 0 1 0 0 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 1 0 0 0 1

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