ClinVar Miner

Variants studied for GAPO 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
6 6 2 0 17 27

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
ANTXR1 6 6 2 17 27

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance benign total
Genome-Nilou Lab 0 0 0 17 17
OMIM 6 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 0 3
Baylor Genetics 0 0 1 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1

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