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
22 6 10 2 0 38

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 22 5 9 2 36
FGD1, TSR2 0 1 1 0 2

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 12 0 0 0 12
Center for Human Genetics, Inc,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 2 2 0 0 4
Baylor Genetics 1 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 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
Keegan Laboratory,University of Michigan 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 1

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