ClinVar Miner

Variants studied for Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Coded as:
Minimum submission review status: Collection method:
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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
14 17 30 31 11 101

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 total
MEIS2 14 16 30 31 11 100
LOC130056775, LOC130056776, LOC130056777, LOC130056778, LOC130056779, LOC130056780, MEIS2 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 17 31 11 59
OMIM 6 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 4 0 0 5
Baylor Genetics 0 3 1 0 0 4
3billion 0 1 1 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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