ClinVar Miner

Variants studied for cardiac conduction defect

Included ClinVar conditions (19):
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 not provided total
46 24 1385 639 128 3 2133

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TRPM4 6 0 749 466 69 0 1225
SCN1B 18 7 279 129 42 1 462
SCN5A 16 8 267 37 15 0 336
LOC110121269, SCN5A 0 1 37 3 2 1 42
RYR2 0 2 6 0 0 0 8
ANK2 0 0 5 0 0 0 5
CACNA1C 0 1 3 0 0 0 4
DSP 2 0 1 0 0 0 3
KCNH2 0 0 2 0 0 1 3
MYBPC3 1 0 2 0 0 0 3
MYH6 0 1 2 0 0 0 3
DMD 0 0 2 0 0 0 2
DSG2 0 1 1 0 0 0 2
HCN4 0 0 2 0 0 0 2
HRC, TRPM4 2 0 2 2 0 0 2
KCNQ1 1 0 1 0 0 0 2
MYH7 0 1 1 0 0 0 2
PKP2 0 0 2 0 0 0 2
TTN 0 0 1 1 0 0 2
ABCC9 0 0 0 1 0 0 1
AKAP10 0 0 1 0 0 0 1
AKAP9 0 0 1 0 0 0 1
ALKBH6, APLP1, ARHGAP33, ATP4A, CAPNS1, CD22, CLIP3, COX6B1, COX7A1, DMKN, ETV2, FAM187B, FFAR1, FFAR2, FFAR3, FXYD1, FXYD3, FXYD5, FXYD7, GAPDHS, GPR42, HAMP, HAUS5, HCST, HPN, HSPB6, IGFLR1, KIRREL2, KMT2B, KRTDAP, LGI4, LIN37, LRFN3, LSR, MAG, NFKBID, NPHS1, OVOL3, POLR2I, PRODH2, PROSER3, PSENEN, RBM42, SBSN, SCN1B, SDHAF1, SYNE4, TBCB, THAP8, TMEM147, TYROBP, U2AF1L4, UPK1A, USF2, WDR62, ZBTB32 0 0 1 0 0 0 1
ANK2, LOC126807137 0 0 1 0 0 0 1
C19orf73, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, GYS1, HRC, KCNA7, LHB, LIN7B, NTF4, PPFIA3, RUVBL2, SNRNP70, TRPM4 0 0 1 0 0 0 1
CASQ2 0 0 1 0 0 0 1
CEP85L, PLN 0 1 0 0 0 0 1
DPP6 0 0 1 0 0 0 1
FLNC 0 1 0 0 0 0 1
GPD1L 0 0 1 0 0 0 1
JUP 0 0 1 0 0 0 1
KCNQ1, KCNQ1OT1 0 0 1 0 0 0 1
LOC126806068, RYR2 0 0 1 0 0 0 1
LOC126861897, MHRT, MYH7 0 0 1 0 0 0 1
MHRT, MYH7 0 0 1 0 0 0 1
MT-TT 0 0 1 0 0 0 1
MYOM1 0 0 1 0 0 0 1
NEBL 0 0 1 0 0 0 1
RBM20 0 0 1 0 0 0 1
SCN3B 0 0 1 0 0 0 1
TNNT2 0 0 1 0 0 0 1
TTR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 20 5 937 573 88 0 1623
Illumina Laboratory Services, Illumina 0 0 240 48 46 0 334
Fulgent Genetics, Fulgent Genetics 14 6 257 21 6 0 304
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 3 6 28 2 0 0 39
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 15 0 0 0 17
Blueprint Genetics 0 1 13 0 0 0 14
OMIM 11 0 0 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 3 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 4 1 0 0 6
Mendelics 0 0 2 0 2 0 4
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 1 0 0 4
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 1 2 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 1 1 0 2
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 2 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Centre of Medical Genetics, University of Antwerp 0 1 1 0 0 0 2
Center for Human Genetics, University of Leuven 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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