Variants from Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University

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	total
10	10	46	0	0	66

Gene and significance breakdown #

Total genes and gene combinations: 41

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
TTN	0	0	6	6
MYBPC3	1	1	3	5
LMNA	2	1	1	4
MYPN	0	0	3	3
COL1A1	0	0	2	2
DSC2	0	0	2	2
FPGT-TNNI3K, TNNI3K	0	1	1	2
JPH2	0	0	2	2
LAMA2	0	0	2	2
LMNA, LOC126805877	0	2	0	2
MYH6	0	0	2	2
MYH7	2	0	0	2
PLEC	0	0	2	2
SCN5A	0	0	2	2
TNNT2	1	0	1	2
AFF4	0	0	1	1
AKAP9	0	0	1	1
BAG3	0	0	1	1
BRAF	0	1	0	1
CASZ1	1	0	0	1
CDH2	0	0	1	1
CHD7	0	0	1	1
CSRP3	0	0	1	1
DES	0	0	1	1
DGKD	0	0	1	1
DMD	0	0	1	1
DTNA	0	1	0	1
FBN1	0	1	0	1
FBN2	0	0	1	1
GATA6	0	1	0	1
GSK3B	0	0	1	1
KLHL24	0	0	1	1
LOC101927055, TTN	0	0	1	1
LOC126806421, TTN	0	0	1	1
LOC126861897, MHRT, MYH7	1	0	0	1
LOC126861898, MYH7	1	0	0	1
LZTR1	0	0	1	1
RBM20	0	0	1	1
SCN1A, SCN9A	1	0	0	1
TPM1	0	1	0	1
TRPM4	0	0	1	1

Condition and significance breakdown #

Total conditions: 8

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Condition	pathogenic	likely pathogenic	uncertain significance	total
Primary dilated cardiomyopathy	2	5	39	46
Dilated cardiomyopathy 1A	2	3	1	6
Hypertrophic cardiomyopathy	0	0	6	6
Primary familial hypertrophic cardiomyopathy	4	1	0	5
Arrhythmogenic right ventricular dysplasia 2	0	1	0	1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive	1	0	0	1
Dilated cardiomyopathy 1DD	0	0	1	1
Dilated cardiomyopathy 1S	1	0	0	1

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