ClinVar Miner

Variants studied for Brugada syndrome 5

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
31 7 337 153 43 1 558

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN1B 31 7 336 153 43 1 557
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

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 30 5 319 150 24 0 528
Illumina Laboratory Services, Illumina 0 0 13 1 26 0 40
Fulgent Genetics, Fulgent Genetics 2 0 21 4 0 0 27
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Baylor Genetics 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
OMIM 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1

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