ClinVar Miner

Variants studied for DOORS syndrome

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
11 2 3 0 0 15

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
TBC1D24 11 2 3 15

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 0 0 8
Division of Medical Genetics; Sainte-Justine Hospital 8 0 0 8
OMIM 5 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 2 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 2
Baylor Genetics 0 1 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 1

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