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 |
104
|
115
|
530
|
154
|
29
|
914
|
Gene and significance breakdown #
Total genes and gene combinations: 86
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
ILK, TAF10
|
0 |
0 |
153
|
113
|
14
|
279
|
MYBPC3
|
52
|
45
|
55
|
10
|
3
|
162
|
MYH7
|
19
|
26
|
26
|
1
|
1
|
65
|
MYH6
|
0 |
0 |
17
|
2
|
1
|
20
|
TNNT2
|
7
|
4
|
5
|
1
|
2
|
19
|
TTN
|
0 |
0 |
16
|
3
|
0 |
19
|
RYR2
|
0 |
0 |
17
|
0 |
0 |
17
|
DSP
|
0 |
0 |
14
|
2
|
0 |
16
|
ILK, LOC130005201
|
0 |
0 |
6
|
8
|
1
|
15
|
MYL3
|
2
|
3
|
9
|
0 |
0 |
14
|
ACTN2
|
0 |
0 |
13
|
0 |
0 |
13
|
TNNI3
|
4
|
5
|
4
|
0 |
0 |
12
|
TPM1
|
2
|
3
|
7
|
0 |
0 |
12
|
LOC126861898, MYH7
|
5
|
4
|
4
|
0 |
0 |
11
|
MYL2
|
1
|
3
|
4
|
1
|
2
|
11
|
PRKAG2
|
1
|
0 |
10
|
0 |
0 |
11
|
LDB3
|
0 |
0 |
8
|
1
|
0 |
9
|
SCN5A
|
0 |
0 |
9
|
0 |
0 |
9
|
ACTC1, GJD2-DT
|
1
|
1
|
5
|
1
|
0 |
8
|
CSRP3
|
0 |
1
|
7
|
0 |
0 |
8
|
MYPN
|
0 |
0 |
7
|
1
|
0 |
8
|
JPH2
|
0 |
1
|
6
|
0 |
0 |
7
|
LAMA4
|
0 |
0 |
7
|
0 |
0 |
7
|
NEXN
|
0 |
0 |
7
|
0 |
0 |
7
|
RAF1
|
1
|
3
|
3
|
0 |
0 |
7
|
RBM20
|
0 |
0 |
6
|
1
|
0 |
7
|
DMD
|
1
|
0 |
5
|
0 |
0 |
6
|
GLA, RPL36A-HNRNPH2
|
1
|
3
|
2
|
0 |
0 |
6
|
MYOM1
|
0 |
0 |
5
|
1
|
0 |
6
|
TRIM63
|
0 |
1
|
5
|
1
|
0 |
6
|
ANKRD1
|
0 |
0 |
4
|
1
|
0 |
5
|
CTNNA3
|
0 |
0 |
5
|
0 |
0 |
5
|
DSG2
|
0 |
0 |
5
|
0 |
0 |
5
|
LMNA
|
1
|
1
|
3
|
0 |
0 |
5
|
LOC126861897, MHRT, MYH7
|
2
|
1
|
3
|
0 |
0 |
5
|
PKP2
|
0 |
0 |
3
|
0 |
2
|
5
|
TCAP
|
0 |
1
|
3
|
1
|
0 |
5
|
TXNRD2
|
0 |
0 |
5
|
0 |
0 |
5
|
DSC2
|
0 |
0 |
2
|
1
|
1
|
4
|
JUP
|
0 |
0 |
3
|
1
|
0 |
4
|
LAMP2
|
0 |
1
|
2
|
0 |
1
|
4
|
BAG3
|
0 |
0 |
3
|
0 |
0 |
3
|
DES
|
0 |
1
|
2
|
0 |
0 |
3
|
FHL1
|
0 |
1
|
2
|
0 |
0 |
3
|
LOC114827851, MYH6
|
0 |
0 |
3
|
0 |
0 |
3
|
NEBL
|
0 |
0 |
3
|
0 |
0 |
3
|
DTNA
|
0 |
0 |
2
|
0 |
0 |
2
|
LOC114827850, MYL2
|
0 |
1
|
1
|
0 |
0 |
2
|
LOC126861896, MYH6
|
0 |
0 |
2
|
0 |
0 |
2
|
LOC126861897, MYH7
|
0 |
1
|
1
|
0 |
0 |
2
|
MHRT, MYH7
|
0 |
2
|
1
|
0 |
0 |
2
|
MIB1
|
0 |
0 |
2
|
0 |
0 |
2
|
MT-TI
|
2
|
0 |
0 |
0 |
0 |
2
|
MYOZ2
|
0 |
0 |
2
|
0 |
0 |
2
|
TMPO
|
0 |
0 |
2
|
0 |
0 |
2
|
VCL
|
0 |
0 |
2
|
0 |
0 |
2
|
ABCC9
|
0 |
0 |
1
|
0 |
0 |
1
|
ACADVL, DLG4
|
0 |
0 |
1
|
0 |
0 |
1
|
C2orf49, FHL2
|
0 |
0 |
1
|
0 |
0 |
1
|
CALR3
|
0 |
0 |
1
|
0 |
0 |
1
|
CAV3, OXTR
|
1
|
0 |
0 |
0 |
0 |
1
|
COMT, TXNRD2
|
0 |
0 |
1
|
0 |
0 |
1
|
CRYAB
|
0 |
0 |
1
|
0 |
0 |
1
|
CTF1, LOC130058878
|
0 |
0 |
1
|
0 |
0 |
1
|
DNAAF3, TNNI3, TNNT1
|
0 |
0 |
0 |
0 |
1
|
1
|
EMD
|
0 |
0 |
1
|
0 |
0 |
1
|
EYA4
|
0 |
0 |
1
|
0 |
0 |
1
|
FLNC
|
0 |
1
|
0 |
0 |
0 |
1
|
ILK
|
0 |
0 |
1
|
0 |
0 |
1
|
KCNH2
|
0 |
1
|
0 |
0 |
0 |
1
|
KRAS
|
0 |
0 |
1
|
0 |
0 |
1
|
LMNA, LOC126805877
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126806068, RYR2
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126806428, TTN
|
0 |
0 |
0 |
1
|
0 |
1
|
LOC129935183, TTN
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC130008520, TMPO
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC130057222, TPM1
|
0 |
0 |
1
|
0 |
0 |
1
|
MT-TG
|
1
|
0 |
0 |
0 |
0 |
1
|
MYLK2
|
0 |
0 |
1
|
0 |
0 |
1
|
PDLIM3
|
0 |
0 |
1
|
0 |
0 |
1
|
PRDM16
|
0 |
0 |
1
|
0 |
0 |
1
|
SHOC2
|
0 |
0 |
1
|
0 |
0 |
1
|
SOS1
|
0 |
0 |
0 |
1
|
0 |
1
|
TAFAZZIN
|
0 |
0 |
1
|
0 |
0 |
1
|
TMEM43
|
0 |
0 |
0 |
1
|
0 |
1
|
TTR
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Blueprint Genetics
|
35
|
60
|
218
|
25
|
3
|
341
|
Invitae
|
0 |
0 |
157
|
121
|
15
|
293
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
24
|
33
|
87
|
1
|
1
|
146
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
54
|
15
|
7
|
2
|
6
|
84
|
CSER _CC_NCGL, University of Washington
|
3
|
9
|
57
|
5
|
0 |
74
|
Klaassen Lab, Charite University Medicine Berlin
|
3
|
0 |
11
|
0 |
0 |
14
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
1
|
1
|
3
|
4
|
4
|
13
|
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University
|
4
|
1
|
0 |
0 |
0 |
5
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics, Medical University Innsbruck
|
1
|
1
|
1
|
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
1
|
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Cardiology unit, Meyer University Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
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