ClinVar Miner

Variants studied for PRKAG2-related cardiomyopathy

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
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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
23 25 514 439 38 1 996

Gene and significance breakdown #

Total genes and gene combinations: 57
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRKAG2 21 9 407 403 33 1 833
LOC129999660, PRKAG2 0 0 33 35 4 0 69
RYR2 0 0 6 0 0 0 6
RHBDF1 0 0 5 0 0 0 5
PRDM16 0 0 4 0 0 0 4
ANK2 0 0 3 0 0 0 3
JUP 0 1 2 0 0 0 3
KCNQ1 0 2 1 0 0 0 3
LOC129999670, PRKAG2 0 0 2 1 0 0 3
MYBPC3 0 0 3 0 0 0 3
VCL 0 0 3 0 0 0 3
ABCC9 0 1 1 0 0 0 2
ACTC1, GJD2-DT 0 1 1 0 0 0 2
AKAP9 0 0 2 0 0 0 2
CACNA1C 0 0 2 0 0 0 2
DPP6 0 0 2 0 0 0 2
DSP 0 0 2 0 0 0 2
FLNC 0 0 2 0 0 0 2
FNIP1 0 0 2 0 0 0 2
KCNH2 0 0 2 0 0 0 2
LAMA4 0 0 2 0 0 0 2
MYH6 0 1 1 0 0 0 2
MYH7 0 1 1 0 0 0 2
SCN5A 0 2 0 0 0 0 2
TTC39A 0 0 2 0 0 0 2
TTN 0 2 0 0 0 0 2
ABCB8, ABCF2, AGAP3, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, FASTK, GBX1, KCNH2, MIR671, NOS3, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86 0 0 1 0 0 0 1
ACTN2 0 0 1 0 0 0 1
CACNA1E 0 0 1 0 0 0 1
CASQ2 0 1 0 0 0 0 1
COL5A1 0 0 1 0 0 0 1
FLNA 0 0 1 0 0 0 1
GALNT11, GALNTL5, KMT2C, PRKAG2, XRCC2 0 0 1 0 0 0 1
GJA5 0 0 1 0 0 0 1
GPD1L 0 0 1 0 0 0 1
KCNJ2 0 0 1 0 0 0 1
LAMC1 0 0 1 0 0 0 1
LMNA 0 0 1 0 0 0 1
LOC110121276, LOC110121277, LOC110121278, LOC110121279, LOC129999662, LOC129999663, LOC129999664, PRKAG2 0 0 1 0 0 0 1
LOC110121276, PRKAG2 0 0 0 0 1 0 1
LOC126806067, RYR2 0 0 1 0 0 0 1
LOC126861898, MYH7 0 1 0 0 0 0 1
MHRT, MYH7 0 1 0 0 0 0 1
MYH11, NDE1 0 0 1 0 0 0 1
NEBL 0 0 1 0 0 0 1
NODAL 1 0 0 0 0 0 1
PITX2 0 0 1 0 0 0 1
RBM20 0 0 1 0 0 0 1
SLC26A4 0 1 0 0 0 0 1
SNTA1 0 0 1 0 0 0 1
TBX20 1 0 0 0 0 0 1
TBX5 0 0 1 0 0 0 1
TCAP 0 0 1 0 0 0 1
TGFBR2 0 0 1 0 0 0 1
TNNT2 0 1 0 0 0 0 1
TRPM4 0 0 1 0 0 0 1
WWP1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 13 7 354 422 32 0 828
Illumina Laboratory Services, Illumina 0 0 80 16 10 0 102
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 15 69 0 0 0 85
Fulgent Genetics, Fulgent Genetics 0 1 21 3 0 0 25
OMIM 11 0 0 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 4 0 0 0 5
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Centre for Genomic and Experimental Medicine, University of Edinburgh 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion, Medical Genetics 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Department of Cardiovascular Medicine, The University of Tokyo, Graduate School of Medicine 1 0 0 0 0 0 1

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