Variants studied for obsolete sudden cardiac death

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
0	2	19	1	1	2	24

Gene and significance breakdown #

Total genes and gene combinations: 20

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Gene or gene combination	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CACNA1C	0	2	0	0	0	2
RYR2	0	2	0	0	0	2
SCN5A	0	0	1	1	0	2
TRPM4	0	2	0	0	0	2
AKAP9	0	1	0	0	0	1
ANK2	0	1	0	0	0	1
CEP85L, PLN	1	0	0	0	0	1
DPP6	0	1	0	0	0	1
DSG2	1	0	0	0	0	1
GPD1L	0	1	0	0	0	1
HCN4	0	1	0	0	0	1
KCNH2	0	0	0	0	1	1
KCNQ1, KCNQ1OT1	0	1	0	0	0	1
LOC110121269, SCN5A	0	1	0	0	1	1
MYH7	0	1	0	0	0	1
MYOM1	0	1	0	0	0	1
NEBL	0	1	0	0	0	1
PKP2	0	1	0	0	0	1
SCN3B	0	1	0	0	0	1
TNNT2	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Blueprint Genetics	1	13	0	0	0	14
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	0	1	1	0	2
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust	0	0	0	0	2	2
Centre of Medical Genetics, University of Antwerp	1	1	0	0	0	2
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute	0	2	0	0	0	2
CSER _CC_NCGL, University of Washington	0	1	0	0	0	1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	1	0	0	0	1
Center for Human Genetics, University of Leuven	0	1	0	0	0	1

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