ClinVar Miner

Variants studied for Blau syndrome

Included ClinVar conditions (4):
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 risk factor not provided total
10 0 197 63 88 4 80 358

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign risk factor not provided total
NOD2 10 197 63 88 4 80 358

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 4 160 40 33 4 0 241
Illumina Clinical Services Laboratory,Illumina 1 32 27 72 0 0 132
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 80 80
OMIM 7 1 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 3 0 0 0 0 3
Mendelics 0 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1

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