Variants studied for Catecholaminergic polymorphic ventricular tachycardia 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
8	28	128	36	34	4	224

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	8	27	128	33	26	4	215
CASQ2, VANGL1	0	0	0	3	8	0	8
RYR2	0	1	0	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
Genome-Nilou Lab	1	16	87	35	23	0	162
Illumina Laboratory Services, Illumina	0	0	47	3	13	0	63
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	1	2	10	0	13
Fulgent Genetics, Fulgent Genetics	2	11	0	0	0	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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	3	0	0	0	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
Neuberg Centre For Genomic Medicine, NCGM	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
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	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

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