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
103 115 528 154 29 911

Gene and significance breakdown #

Total genes and gene combinations: 85
Download table as spreadsheet
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
GLA, RPL36A-HNRNPH2 1 3 2 0 0 6
MYOM1 0 0 5 1 0 6
ANKRD1 0 0 4 1 0 5
CTNNA3 0 0 5 0 0 5
DMD 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
TRIM63 0 1 4 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
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 #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Blueprint Genetics 35 60 218 25 3 341
Invitae 0 0 156 121 15 292
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
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

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.