ClinVar Miner

Variants studied for corneogoniodysgenesis

Included ClinVar conditions (6):
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
11 2 8 3 11 35

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PXDN 4 0 6 3 11 24
CHRDL1 7 0 0 0 0 7
​intergenic 0 0 2 0 0 2
COL11A1 0 1 0 0 0 1
NFIX 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 6 3 11 20
OMIM 10 0 0 0 0 10
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 2 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Institute of Human Genetics,Martin-Luther-Universität Halle-Wittemberg 1 0 0 0 0 1
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1

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