ClinVar Miner

Variants studied for DOORS 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 not provided total
12 3 0 0 0 6 18

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic not provided total
TBC1D24 12 3 6 18

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic not provided 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
GeneReviews 0 0 6 6
OMIM 5 0 0 5
Baylor Genetics 1 1 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 2
Mendelics 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 1

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