ClinVar Miner

Variants studied for Primary familial hypertrophic 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 total
104 115 530 154 29 914

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 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
DMD 1 0 5 0 0 6
GLA, RPL36A-HNRNPH2 1 3 2 0 0 6
MYOM1 0 0 5 1 0 6
TRIM63 0 1 5 1 0 6
ANKRD1 0 0 4 1 0 5
CTNNA3 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
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
ILK 0 0 1 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: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Blueprint Genetics 35 60 218 25 3 341
Invitae 0 0 157 121 15 293
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
Institute of Human Genetics, Medical University Innsbruck 1 1 1 0 0 3
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

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