ClinVar Miner

Variants studied for Congenital heart defects, multiple types, 2

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 total
17 13 9 1 0 38

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 total
LOC126859827, TAB2 12 10 4 0 25
TAB2 5 3 5 1 13

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Baylor Genetics 4 0 3 0 7
OMIM 5 0 0 0 5
Revvity Omics, Revvity 0 1 3 0 4
Fulgent Genetics, Fulgent Genetics 0 1 1 1 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 1 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 2
3billion 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 1
Mendelics 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 1
Quironsalud Teknon Heart Institute, Quironsalud Teknon Hospital 0 0 1 0 1
Division of Biology and Genetics, University of Brescia 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 1
Pediatric Endocrinology and Metabolic Disease, Anhui Provincial Children’s Hospital 1 0 0 0 1

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