ClinVar Miner

Variants studied for Primary dilated cardiomyopathy

Coded as:
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Gene type:
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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
50 350 352 89 57 6 891

Gene and significance breakdown #

Total genes and gene combinations: 80
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 4 223 69 0 0 0 292
NEBL 0 0 65 37 23 0 125
TXNRD2 0 0 36 22 16 0 73
LMNA 16 30 7 1 2 0 55
MYH7 6 21 7 1 0 0 32
DSP 1 16 13 1 0 0 31
FHL2 0 0 15 6 8 0 29
RBM20 4 5 8 1 0 0 17
TNNT2 4 10 3 0 0 0 17
SCN5A 1 1 9 1 0 6 15
MYBPC3 1 3 6 3 1 0 14
BAG3 2 8 2 0 0 0 12
TPM1 1 10 1 0 0 0 12
DMD 0 0 7 2 1 0 10
VCL 0 9 1 0 0 0 10
RYR2 0 0 8 0 0 0 8
MYH6 0 0 6 1 0 0 7
MYPN 0 1 4 2 0 0 7
ABCC9 0 0 5 0 1 0 6
ANKRD1 0 0 2 2 2 0 6
CTNNA3 0 0 5 0 0 0 5
DES 2 1 1 0 1 0 5
LAMA4 0 0 5 0 0 0 5
MHRT, MYH7 0 2 3 0 0 0 5
COMT, TXNRD2 0 0 4 0 0 0 4
JPH2 0 0 4 0 0 0 4
TMPO 0 0 3 1 0 0 4
TNNI3 1 2 1 0 0 0 4
CEP85L, PLN 3 0 0 0 0 0 3
DSG2 1 1 1 0 0 0 3
DTNA 0 0 3 0 0 0 3
FLNC 1 0 1 1 0 0 3
JUP 0 0 3 0 0 0 3
NEXN 0 1 2 0 0 0 3
TCAP 0 1 1 1 0 0 3
ACTC1, LOC101928174 0 1 1 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
LDB3 0 0 0 2 0 0 2
LDB3, LOC110121486 1 0 0 0 1 0 2
LOC101927055, TTN 0 2 0 0 0 0 2
PDLIM3 0 0 2 0 0 0 2
PKP2 0 0 2 0 0 0 2
SGCD 0 0 2 0 0 0 2
SYNE2 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
ANK2 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
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
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
LAMP2 0 0 1 0 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
SYNE1 0 0 1 0 0 0 1
TMEM43 0 0 1 0 0 0 1
TNNC1 0 0 1 0 0 0 1
TSFM 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 41 194 2 0 0 0 237
Invitae 0 0 116 65 47 0 228
Blueprint Genetics, 8 52 125 9 0 0 194
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 102 64 0 0 6 169
CSER_CC_NCGL; University of Washington Medical Center 0 0 17 6 1 0 24
Biesecker Lab/Human Development 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
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
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
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 1 0 0 0 0 1

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