ClinVar Miner

Variants studied for X-linked Opitz G/BBB syndrome

Included ClinVar conditions (1):
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
17 8 4 0 1 29

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
MID1 17 8 4 1 29

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance benign total
Center for Human Genetics, Inc,Center for Human Genetics, Inc 7 5 1 0 13
OMIM 9 0 0 0 9
Illumina Clinical Services Laboratory,Illumina 0 2 1 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 1
Autoinflammatory diseases unit,CHU de Montpellier 0 1 0 0 1

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