ClinVar Miner

Variants studied for Primary dilated cardiomyopathy

Coded as:
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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
54 361 433 44 14 6 899

Gene and significance breakdown #

Total genes and gene combinations: 86
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 7 230 71 0 0 0 304
NEBL 0 1 80 12 4 0 97
TXNRD2 0 0 54 4 0 0 58
LMNA 16 32 7 1 2 0 57
DSP 2 16 15 1 0 0 34
MYH7 4 21 10 1 0 0 33
FHL2 0 0 23 4 0 0 27
RBM20 5 5 10 1 0 0 20
TNNT2 4 11 5 0 0 0 19
SCN5A 1 1 11 1 0 6 17
BAG3 2 8 5 0 0 0 15
MYBPC3 1 3 6 3 1 0 14
TPM1 1 10 2 0 0 0 13
DMD 0 0 7 2 1 0 10
MYPN 0 1 7 2 0 0 10
RYR2 0 0 10 0 0 0 10
VCL 0 7 2 0 0 0 9
MYH6 0 0 6 1 0 0 7
ABCC9 0 0 5 0 1 0 6
ANKRD1 0 0 2 2 2 0 6
LAMA4 0 0 6 0 0 0 6
MHRT, MYH7 0 2 4 0 0 0 6
CTNNA3 0 0 5 0 0 0 5
DES 2 1 1 0 1 0 5
FLNC 1 0 3 1 0 0 5
NEXN 0 1 4 0 0 0 5
PKP2 0 0 5 0 0 0 5
TNNI3 2 2 1 0 0 0 5
JPH2 0 0 4 0 0 0 4
TMPO 0 0 3 1 0 0 4
CEP85L, PLN 3 0 0 0 0 0 3
COMT, TXNRD2 0 0 3 0 0 0 3
DSG2 1 1 1 0 0 0 3
DTNA 0 0 3 0 0 0 3
JUP 0 0 3 0 0 0 3
TCAP 0 1 1 1 0 0 3
ACTC1, LOC101928174 0 1 1 0 0 0 2
ANK2 0 0 2 0 0 0 2
CRYAB 0 0 2 0 0 0 2
CSRP3 0 0 1 0 1 0 2
DSC2 0 0 1 1 0 0 2
LAMP2 0 1 1 0 0 0 2
LDB3 0 0 0 2 0 0 2
LDB3, LOC110121486 0 0 1 0 1 0 2
LOC101927055, TTN 0 2 0 0 0 0 2
PDLIM3 0 0 2 0 0 0 2
SGCD 0 0 2 0 0 0 2
SYNE2 0 0 2 0 0 0 2
TAZ 1 1 0 0 0 0 2
TBX20 0 0 2 0 0 0 2
TNNC1 0 0 2 0 0 0 2
ACADVL 0 0 1 0 0 0 1
ACTN2 0 0 0 1 0 0 1
AKAP9 0 0 1 0 0 0 1
CACNB2, NSUN6 0 0 1 0 0 0 1
CALR3 0 0 1 0 0 0 1
COMT, GNB1L, LOC110120888, RTL10, TBX1, TXNRD2 0 0 1 0 0 0 1
CTF1 0 0 1 0 0 0 1
DPP6 0 0 1 0 0 0 1
EMD 0 0 1 0 0 0 1
EYA4 0 0 1 0 0 0 1
FKRP 0 0 1 0 0 0 1
FPGT-TNNI3K, TNNI3K 0 0 1 0 0 0 1
GATA4 0 0 1 0 0 0 1
GCOM1, MYZAP 0 1 0 0 0 0 1
GPD1L 0 0 1 0 0 0 1
GSK3A 0 0 1 0 0 0 1
HCN4 0 0 1 0 0 0 1
ILK, TAF10 0 0 1 0 0 0 1
KCNE2 0 0 1 0 0 0 1
KCNH2 0 0 0 1 0 0 1
LOC110121269, SCN5A 0 0 1 0 0 0 1
LOC114827851, MYH6 0 0 0 1 0 0 1
MYL2 0 0 1 0 0 0 1
MYOM1 0 0 1 0 0 0 1
NCAPH2, SCO2 0 1 0 0 0 0 1
NEDD4L 0 0 1 0 0 0 1
PSEN2 0 0 1 0 0 0 1
RAF1 0 0 1 0 0 0 1
SCN2B 0 0 1 0 0 0 1
SCN4B 0 0 1 0 0 0 1
SOS1 0 0 1 0 0 0 1
STK38 0 0 1 0 0 0 1
SYNE1 0 0 1 0 0 0 1
TMEM43 0 0 1 0 0 0 1
TSFM 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 40 199 2 0 0 0 241
Blueprint Genetics 8 52 125 9 0 0 194
Invitae 0 0 154 20 4 0 178
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 102 64 0 0 6 169
Klaassen Lab,Charite University Medicine Berlin 1 2 26 0 0 0 29
CSER _CC_NCGL, University of Washington 0 0 17 6 1 0 24
Institute of Human Genetics,University of Wuerzburg 3 4 11 0 0 0 18
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 0 3 6 5 0 15
Center for Human Genetics,University of Leuven 1 1 6 1 0 0 9
Phosphorus, Inc. 0 0 8 1 0 0 9
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 1 5 3 0 0 0 9
Integrated Genetics/Laboratory Corporation of America 0 2 0 2 4 0 8
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 6 0 0 0 7
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 3 0 0 0 4
ITMI 0 0 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 0 3
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 0 2 0 0 0 0 2
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 0 1 1 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 1
emedgene Technologies 1 0 0 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 0 0 1

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