ClinVar Miner

Variants studied for Progressive familial heart block type IB

Coded as:
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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 total
8 0 747 466 69 1224

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance likely benign benign total
TRPM4 6 744 464 69 1221
HRC, TRPM4 2 2 2 0 2
C19orf73, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, GYS1, HRC, KCNA7, LHB, LIN7B, NTF4, PPFIA3, RUVBL2, SNRNP70, TRPM4 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic uncertain significance likely benign benign total
Invitae 3 672 447 65 1187
Illumina Laboratory Services, Illumina 0 87 17 8 112
OMIM 6 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 3 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 3
Genome-Nilou Lab 0 0 0 3 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 2 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 1

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