ClinVar Miner

Variants studied for Primary familial hypertrophic cardiomyopathy

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
235 208 351 38 17 812

Gene and significance breakdown #

Total genes and gene combinations: 74
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYBPC3 170 65 53 11 3 288
MYH7 33 68 29 1 1 117
TNNT2 10 13 5 1 2 29
TNNI3 7 18 3 0 0 24
ILK, TAF10 0 0 15 3 3 21
TTN 0 0 17 4 0 21
MYL2 1 10 6 1 2 20
MYH6 0 0 15 2 1 18
TPM1 3 9 7 0 0 18
DSP 0 0 15 2 0 17
RYR2 0 0 17 0 0 17
PRKAG2 2 4 9 0 0 15
MYL3 1 4 8 0 0 13
ACTN2 0 0 11 0 0 11
ACTC1, LOC101928174 1 2 6 1 0 10
SCN5A 0 0 8 0 0 8
RBM20 0 0 6 1 0 7
CSRP3 0 0 6 0 0 6
LAMA4 0 0 6 0 0 6
MYOM1 0 0 5 1 0 6
MYPN 0 0 5 1 0 6
CTNNA3 0 0 5 0 0 5
DSG2 0 0 5 0 0 5
JPH2 0 1 4 0 0 5
LDB3 0 0 4 1 0 5
LMNA 1 1 3 0 0 5
MHRT, MYH7 0 2 4 0 0 5
NEXN 0 0 5 0 0 5
RAF1 1 3 1 0 0 5
TXNRD2 0 0 5 0 0 5
ANKRD1 0 0 3 1 0 4
DMD 0 0 4 0 0 4
DSC2 0 0 2 1 1 4
JUP 0 0 3 1 0 4
LAMP2 0 1 2 0 1 4
PKP2 0 0 3 0 1 4
TCAP 0 1 2 1 0 4
TRIM63 0 0 3 1 0 4
BAG3 0 0 3 0 0 3
DES 0 1 2 0 0 3
FHL1 0 1 2 0 0 3
ILK 0 0 1 1 1 3
LOC114827850, MYL2 0 2 1 0 0 3
NEBL 0 0 3 0 0 3
TMPO 0 0 3 0 0 3
ALPK3 0 2 0 0 0 2
DTNA 0 0 2 0 0 2
GLA, RPL36A-HNRNPH2 0 0 2 0 0 2
LOC114827851, MYH6 0 0 2 0 0 2
MIB1 0 0 2 0 0 2
MT-TI 2 0 0 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
CALR3 0 0 1 0 0 1
CAV3 1 0 0 0 0 1
CEP85L, PLN 1 0 0 0 0 1
COMT, TXNRD2 0 0 1 0 0 1
CRYAB 0 0 1 0 0 1
CTF1 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
FHL2 0 0 1 0 0 1
KRAS 0 0 1 0 0 1
LOC100128979, TPM1 0 0 1 0 0 1
MT-TG 1 0 0 0 0 1
MYLK2 0 0 1 0 0 1
MYOZ2 0 0 1 0 0 1
PDLIM3 0 0 1 0 0 1
SHOC2 0 0 1 0 0 1
SOS1 0 0 0 1 0 1
TAZ 0 0 1 0 0 1
TMEM43 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 10
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Blueprint Genetics, 35 63 219 25 3 345
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 215 119 0 0 0 334
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 15 19 58 1 0 93
CSER_CC_NCGL; University of Washington Medical Center 3 10 57 5 0 75
Integrated Genetics/Laboratory Corporation of America 15 7 12 4 6 44
Invitae 0 0 12 4 4 20
Biesecker Lab/Human Development Section,National Institutes of Health 1 1 3 4 4 13
OMIM 4 0 0 0 0 4
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.