ClinVar Miner

Variants studied for Brugada syndrome 1; Long QT syndrome 3

Coded as:
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
1 9 8 2 1 1 22

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
SCN5A 1 9 7 2 1 1 21
LOC110121269, SCN5A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 4 2 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 2 1 0 4
Clinical Genomics Laboratory, Stanford Medicine 0 0 4 0 0 0 4
New York Genome Center 1 1 1 0 0 0 3
deCODE genetics, Amgen 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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