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
19 7 10 0 2 1 39

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
NALCN 19 7 10 2 1 39

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
University of Washington Center for Mendelian Genomics, University of Washington 14 0 0 0 0 14
OMIM 5 0 0 0 0 5
Baylor Genetics 0 0 5 0 0 5
Mendelics 0 0 0 2 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 2
National Research Council,Institute of Genetics and Biomedical Research 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1

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