ClinVar Miner

Variants in gene GATA5

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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
4 1 305 231 34 556

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 1 281 227 33 527
not specified 0 0 40 1 5 46
GATA5-related disorder 0 0 9 12 3 24
Congenital heart defects, multiple types, 5 4 0 16 0 3 23
Congenital heart defects, multiple types 0 0 3 0 0 3
Familial thoracic aortic aneurysm and aortic dissection 0 0 2 1 0 3
Inborn genetic diseases 0 0 2 0 0 2
See cases 0 0 0 1 1 2
Aortic valve disease 1; Familial thoracic aortic aneurysm and aortic dissection 0 0 1 0 0 1
Arterial dissection 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 257 201 18 476
GeneDx 0 1 51 33 22 107
Ambry Genetics 0 0 39 1 0 40
Breakthrough Genomics, Breakthrough Genomics 0 0 1 10 19 30
PreventionGenetics, part of Exact Sciences 0 0 9 12 3 24
CeGaT Center for Human Genetics Tuebingen 0 0 6 7 0 13
Revvity Omics, Revvity 0 0 8 0 0 8
Blueprint Genetics 0 0 5 1 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 5 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 4 5
OMIM 4 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 2
ISCA Site 6 0 0 0 1 1 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1

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