ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, periodontal type 1

Included ClinVar conditions (1):
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
17 0 2 0 0 19

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance total
C1R 15 2 17
C1S 2 0 2

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance total
Division of Human Genetics,Medical University Innsbruck 16 0 16
OMIM 7 0 7
Centogene AG - the Rare Disease Company 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1

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