ClinVar Miner

Variants studied for Saethre-Chotzen 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 total
36 6 64 20 40 164

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FGFR2 8 1 48 15 37 108
TWIST1 27 5 16 5 3 55
FGFR3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 47 15 37 99
Invitae 16 3 15 5 3 42
OMIM 11 0 0 0 0 11
Fulgent Genetics,Fulgent Genetics 7 1 2 0 0 10
Klinisk genetik och genomik Research,Gothenburg University 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 0 1 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 1

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