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 total
16 5 3 0 0 24

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NALCN 16 5 3 24

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
University of Washington Center for Mendelian Genomics,University of Washington 14 0 0 14
OMIM 5 0 0 5
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 2 0 0 2
National Research Council,Institute of Genetics and Biomedical Research 0 2 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 0 0 1 1

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