ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, periodontitis type

Included ClinVar conditions (3):
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 16 3 0 0 19

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
C1R 14 14 1 15
C1S 2 2 2 4

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance total
Division Human Genetics,Medical University Innsbruck 16 0 0 16
University of Washington Center for Mendelian Genomics,University of Washington 0 16 0 16
OMIM 9 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 3

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