Variants studied for arrhythmogenic right ventricular dysplasia 13

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
2	1	444	202	52	2	696

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CTNNA3	2	1	439	202	52	2	691
CTNNA3, LOC132089820, LOC132089821	0	0	2	0	0	0	2
CTNNA3, LOC101928961, LRRTM3	0	0	1	0	0	0	1
CTNNA3, LOC126860948, LOC132089819, LOC132089820, LOC132089821	0	0	1	0	0	0	1
CTNNA3, LRRTM3	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	0	0	428	199	52	0	679
Revvity Omics, Revvity	0	0	8	2	0	0	10
Fulgent Genetics, Fulgent Genetics	0	0	8	1	0	0	9
New York Genome Center	0	0	3	0	0	0	3
OMIM	2	0	0	0	0	0	2
GeneReviews	0	0	0	0	0	2	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	0	2
Centogene AG - the Rare Disease Company	0	0	1	0	0	0	1
Mendelics	0	0	1	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	1	0	0	0	1
Phosphorus, Inc.	0	0	1	0	0	0	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	0	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	1	0	0	0	1

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