ClinVar Miner

Variants studied for short QT syndrome

Included ClinVar conditions (12):
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
72 28 493 169 91 8 848

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KCNJ2 33 11 248 119 46 2 452
KCNQ1 20 15 101 27 38 1 198
KCNH2 18 2 130 15 1 5 169
KCNQ1, KCNQ1OT1 0 0 5 7 5 0 17
SLC4A3 1 0 3 0 0 0 4
KCNJ2, LOC130061539 0 0 2 0 1 0 3
CACNA2D1 0 0 2 0 0 0 2
CACNA1C 0 0 0 1 0 0 1
TRPM4 0 0 1 0 0 0 1
VCL 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 30 10 171 116 10 0 337
Fulgent Genetics, Fulgent Genetics 21 13 189 26 3 0 252
Illumina Laboratory Services, Illumina 0 0 137 29 81 0 247
New York Genome Center 0 2 14 0 0 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 0 10 1 0 0 15
OMIM 9 0 0 0 0 0 9
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 7 7
Mendelics 6 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 4 0 0 0 5
Baylor Genetics 3 1 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 3 0 0 0 3
Blueprint Genetics 0 0 1 1 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1

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