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 |
838
|
504
|
5046
|
3216
|
353
|
3
|
9762
|
Gene and significance breakdown #
Total genes and gene combinations: 139
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
MYBPC3
|
560
|
140
|
1134
|
798
|
66
|
3
|
2651
|
MYH7
|
143
|
179
|
1320
|
850
|
58
|
0 |
2475
|
MYOM1
|
0 |
1
|
728
|
437
|
94
|
0 |
1258
|
JPH2
|
1
|
0 |
300
|
191
|
28
|
0 |
520
|
TPM1
|
13
|
26
|
238
|
176
|
9
|
0 |
453
|
TNNI3
|
28
|
26
|
237
|
165
|
10
|
0 |
451
|
LOC126861897, MHRT, MYH7
|
7
|
10
|
171
|
113
|
5
|
0 |
304
|
LOC126861898, MYH7
|
38
|
55
|
118
|
70
|
5
|
0 |
269
|
MYL3
|
5
|
5
|
159
|
91
|
8
|
0 |
261
|
MHRT, MYH7
|
10
|
7
|
103
|
96
|
10
|
0 |
223
|
MYOZ2
|
0 |
0 |
94
|
36
|
12
|
0 |
142
|
TTN
|
1
|
0 |
65
|
40
|
6
|
0 |
112
|
LAMP2
|
1
|
6
|
37
|
28
|
2
|
0 |
73
|
LOC126861897, MYH7
|
4
|
2
|
33
|
18
|
1
|
0 |
57
|
ACTC1, GJD2-DT
|
1
|
2
|
46
|
4
|
1
|
0 |
51
|
TNNT2
|
8
|
14
|
15
|
7
|
7
|
0 |
47
|
ACTN2
|
0 |
0 |
14
|
15
|
0 |
0 |
29
|
PRKAG2
|
4
|
6
|
6
|
1
|
5
|
0 |
22
|
MYH6
|
0 |
0 |
18
|
3
|
0 |
0 |
21
|
CSRP3
|
0 |
1
|
14
|
3
|
0 |
0 |
18
|
DNAAF3, TNNI3
|
0 |
0 |
0 |
16
|
4
|
0 |
17
|
RYR2
|
0 |
0 |
16
|
1
|
0 |
0 |
17
|
MYL2
|
2
|
8
|
3
|
1
|
2
|
0 |
16
|
FLNC
|
0 |
0 |
7
|
1
|
1
|
0 |
9
|
GLA, RPL36A-HNRNPH2
|
0 |
1
|
2
|
5
|
3
|
0 |
9
|
NEXN
|
0 |
0 |
7
|
2
|
0 |
0 |
9
|
TRIM63
|
3
|
2
|
6
|
1
|
0 |
0 |
9
|
MIR208B, MYH6, MYH7
|
0 |
0 |
8
|
0 |
0 |
0 |
8
|
MYLK2
|
0 |
0 |
5
|
2
|
0 |
0 |
7
|
VCL
|
0 |
0 |
6
|
1
|
0 |
0 |
7
|
CEP85L, PLN
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
LOC114827850, MYL2
|
1
|
2
|
2
|
0 |
1
|
0 |
6
|
MIR208A, MYH6, MYH7
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
MYPN
|
0 |
0 |
5
|
1
|
0 |
0 |
6
|
RBM20
|
0 |
0 |
4
|
1
|
1
|
0 |
6
|
TCAP
|
0 |
1
|
4
|
0 |
1
|
0 |
6
|
ANK2
|
0 |
0 |
4
|
1
|
0 |
0 |
5
|
CALR3
|
0 |
0 |
4
|
1
|
0 |
0 |
5
|
DSC2
|
0 |
0 |
1
|
4
|
0 |
0 |
5
|
LDB3
|
0 |
0 |
3
|
2
|
0 |
0 |
5
|
TRPM4
|
0 |
0 |
3
|
1
|
1
|
0 |
5
|
ALPK3
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
DSG2
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
DSP
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
LOC126806420, TTN
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
SCN5A
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
TNNI3, TNNT1
|
0 |
0 |
1
|
3
|
0 |
0 |
4
|
AKAP9
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
CACNA1C
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
KCNH2
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
LOC126806424, TTN
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
LOC126861896, MYH6
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
NEBL
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
TNNC1
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
ABCC9
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
ANKRD1
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
BAG3
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
CRYAB
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
CTF1, LOC130058878
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
DMD
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
DTNA
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
EMILIN2, LPIN2, MYOM1, SMCHD1
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
FKTN
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
GAA
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
GTPBP3
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
HCN4
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
KCNJ5
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
KCNJ8
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
LMNA
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
LOC100128979, TPM1
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
LOC101927055, TTN
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
LOC114827851, LOC126861897, MHRT, MIR208B, MYH6, MYH7
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
LOC126806067, RYR2
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
LOC126806433, TTN
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
MIR208A, MIR208B, MYH6, MYH7
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
MIR208B, MYH7
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
POLG, POLGARF
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
PTPN11
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
TGFB3
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
TMEM43
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
TMPO
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
ACP2, ARFGAP2, CSTPP1, DDB2, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ANK2, LOC126807136
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
APH1B, CA12, FBXL22, HERC1, LACTB, LOC100128979, RAB8B, RPS27L, TPM1, USP3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
BRAF
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CAV3, OXTR
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CELSR3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
COL1A1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DES
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DNAAF3, LOC130065089, LOC130065090, LOC130065091, LOC130065092, LOC130065093, LOC130065094, LOC130065095, LOC130065096, LOC130065097, MIR6802, MIR6803, MIR6804, PPP6R1, PTPRH, SYT5, TMEM86B, TNNI3, TNNT1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DNAAF3, LOC130065090, TNNI3
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
DNAAF3, TNNI3, TNNT1
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
EMD
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
EMILIN2, LPIN2, MYL12A, MYL12B, MYOM1, SMCHD1, TGIF1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ETFDH
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
EYA4
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
FHL1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FHOD3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FXN, LOC130001862
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GJA5, LOC122128420
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GPD1L
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
GPR149
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
HCN4, LOC105370890, LOC126862173
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
JPH2, LOC108353820, LOC121853007
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
JUP
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KCNE1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KCNJ2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KCNQ1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
KIF5B
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
KLHL24
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LAMA2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LDB3, LOC110121486
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC110121269, SCN5A
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
LOC114827851, MYH6
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC114827851, MYH6, MYH7
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
LOC114827851, MYH7
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
LOC126806068, RYR2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126806422, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126806426, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126806427, TTN
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
LOC126806428, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126806429, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126806431, TTN
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
LOC129930795, NEXN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MADD, MYBPC3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MAP2K2
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
MASP1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MYBPHL
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MYH6, MYH7
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
MYH7B
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NKX2-5
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PDLIM3
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
PKP2
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
RNF123
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SGCA
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
SGCB
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
SOS1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
TTR
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
UQCRC1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
757
|
286
|
4579
|
3017
|
301
|
0 |
8939
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
222
|
157
|
0 |
0 |
0 |
0 |
379
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
195
|
98
|
2
|
0 |
294
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
34
|
29
|
85
|
7
|
4
|
0 |
159
|
Center for Human Genetics, University of Leuven
|
41
|
28
|
85
|
1
|
0 |
0 |
155
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
|
6
|
4
|
28
|
51
|
16
|
0 |
105
|
Genetics and Genomics Program, Sidra Medicine
|
4
|
6
|
60
|
31
|
0 |
0 |
101
|
Cohesion Phenomics
|
0 |
0 |
0 |
14
|
68
|
0 |
82
|
ClinGen Cardiomyopathy Variant Curation Expert Panel
|
25
|
18
|
30
|
2
|
0 |
0 |
75
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
13
|
2
|
6
|
0 |
21
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
2
|
3
|
9
|
2
|
0 |
0 |
16
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
3
|
6
|
0 |
0 |
0 |
11
|
Institute of Human Genetics, University of Wuerzburg
|
1
|
5
|
4
|
0 |
0 |
0 |
10
|
Genetics and Molecular Pathology, SA Pathology
|
5
|
1
|
4
|
0 |
0 |
0 |
10
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
7
|
1
|
0 |
0 |
8
|
Loeys Lab, Universiteit Antwerpen
|
2
|
0 |
5
|
0 |
0 |
0 |
7
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
3
|
2
|
1
|
0 |
0 |
0 |
6
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
0 |
1
|
5
|
0 |
0 |
0 |
6
|
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
CSER _CC_NCGL, University of Washington
|
0 |
2
|
2
|
1
|
0 |
0 |
5
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre
|
1
|
0 |
2
|
1
|
0 |
0 |
4
|
Genetic Medico-Diagnostic Laboratory Genica
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Molecular Cardiogenetic Lab, Hospices Civils de Lyon
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Genotypic Technology Pvt Ltd
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Health in Code S.L.
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Phosphorus, Inc.
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Rampazzo Lab, Human Molecular Genetics Unit, University of Padua
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
1
|
0 |
2
|
Genomics, Clalit Research Institute, Clalit Health Care
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics Lab, DMCH Ludhiana, Dayanand Medical College & Hospital (DMCH)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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genetics professional. Individuals should not change their
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