ClinVar Miner

Variants studied for progressive familial heart block

Included ClinVar conditions (13):
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 30 1404 643 128 1 2159

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TRPM4 6 0 752 469 69 0 1230
SCN1B 18 7 279 129 42 1 463
SCN5A 17 16 298 38 15 0 375
LOC110121269, SCN5A 0 1 41 3 2 0 46
RYR2 0 2 4 0 0 0 6
ANK2 0 0 4 0 0 0 4
DSP 1 1 1 0 0 0 3
HRC, TRPM4 2 0 2 3 0 0 3
MYBPC3 1 0 2 0 0 0 3
CASQ2 0 0 2 0 0 0 2
DMD 0 0 2 0 0 0 2
KCNQ1 1 0 1 0 0 0 2
MYH6 0 0 2 0 0 0 2
ABCC9 0 0 0 1 0 0 1
AKAP10 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
CACNA1C 0 1 0 0 0 0 1
DSG2 0 0 1 0 0 0 1
FLNC 0 1 0 0 0 0 1
JUP 0 0 1 0 0 0 1
KCNH2 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
MYH7 0 1 0 0 0 0 1
PKP2 0 0 1 0 0 0 1
RBM20 0 0 1 0 0 0 1
TTN 0 0 1 0 0 0 1
TTR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 20 5 939 574 88 0 1626
Illumina Laboratory Services, Illumina 0 0 276 52 46 0 374
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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 7 6 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
Mendelics 0 0 2 0 2 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 1 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 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 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 1 0 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 Laboratory, 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
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1

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