ClinVar Miner

Variants studied for congenital contractures of the limbs and face, hypotonia, and developmental delay

Included ClinVar conditions (2):
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
28 21 32 8 8 2 95

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
NALCN 28 21 32 7 8 2 94
LOC126861831, NALCN 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
University of Washington Center for Mendelian Genomics, University of Washington 14 0 0 0 0 0 14
Fulgent Genetics, Fulgent Genetics 1 1 1 5 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 3 1 0 0 7
OMIM 6 0 0 0 0 0 6
Baylor Genetics 1 0 5 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 1 1 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
3billion 1 2 2 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 2 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
National Research Council, Institute of Genetics and Biomedical Research 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 1 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Genomics Laboratory, Royal University Hospital 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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