ClinVar Miner

Variants studied for Aarskog-Scott syndrome, X-linked

Included ClinVar conditions (2):
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 5 7 2 0 29

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
FGD1 17 4 6 2 27
FGD1, TSR2 0 1 1 0 2

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 12 0 0 0 12
Center for Human Genetics, Inc 1 3 3 0 7
Mendelics 2 0 2 1 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 2
Baylor Genetics 1 0 0 0 1
Keegan Laboratory,University of Michigan 0 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 1

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