ClinVar Miner

Variants studied for Primary familial hypertrophic cardiomyopathy

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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
72 109 393 35 14 610

Gene and significance breakdown #

Total genes and gene combinations: 75
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYBPC3 34 45 55 11 3 145
MYH7 17 29 31 1 1 72
MYH6 0 0 19 2 1 22
TTN 0 0 17 4 0 21
ILK, TAF10 0 0 19 1 0 20
RYR2 0 0 18 0 0 18
TNNT2 6 5 5 1 2 18
DSP 0 0 15 2 0 17
ACTN2 0 0 13 0 0 13
MYL2 1 2 6 1 2 12
MYL3 0 3 9 0 0 12
TPM1 2 3 7 0 0 12
PRKAG2 1 0 10 0 0 11
TNNI3 3 5 4 0 0 11
ACTC1, LOC101928174 1 1 7 1 0 10
LDB3 0 0 8 1 0 9
SCN5A 0 0 9 0 0 9
MYPN 0 0 7 1 0 8
CSRP3 0 0 7 0 0 7
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
LMNA 1 1 4 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
MHRT, MYH7 0 2 4 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
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
LOC114827851, MYH6 0 0 3 0 0 3
NEBL 0 0 3 0 0 3
TMPO 0 0 3 0 0 3
DTNA 0 0 2 0 0 2
LOC114827850, MYL2 0 1 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
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
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
ILK 0 0 1 0 0 1
KCNH2 0 1 0 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
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
TAZ 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: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Blueprint Genetics 35 63 219 25 3 345
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 24 34 87 1 1 147
CSER _CC_NCGL, University of Washington 3 10 57 5 0 75
Integrated Genetics/Laboratory Corporation of America 15 7 12 4 6 44
Invitae 0 0 16 0 0 16
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
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
Cardiology unit,Meyer University Hospital 1 0 0 0 0 1

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