ClinVar Miner

Variants studied for Brugada syndrome 8

Included ClinVar conditions (3):
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 total
6 8 947 643 43 1641

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HCN4 3 8 880 583 43 1512
HCN4, LOC105370890, LOC126862173 2 0 59 52 0 113
HCN4, LOC105370890 1 0 5 8 0 13
ADPGK, ARID3B, BBS4, CCDC33, CD276, CLK3, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, GOLGA6A, HCN4, INSYN1, ISLR, ISLR2, LMAN1L, LOXL1, MPI, NEO1, NPTN, PML, REC114, SCAMP2, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, ULK3 0 0 1 0 0 1
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, HEXA, NEO1, TMEM202 0 0 1 0 0 1
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, NEO1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 5 8 934 643 43 1633
Fulgent Genetics, Fulgent Genetics 0 0 69 6 1 76
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 3 0 0 3
New York Genome Center 0 0 3 0 0 3
OMIM 1 0 1 0 0 2
Mendelics 0 0 1 0 1 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Phosphorus, Inc. 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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