ClinVar Miner

Variants studied for Kindler's syndrome

Coded as:
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
30 0 69 21 15 135

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign total
FERMT1 30 69 21 15 135

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 69 21 15 106
GeneReviews 25 0 0 0 25
OMIM 6 0 0 0 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 1

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