ClinVar Miner

Variants studied for androgen insensitivity syndrome

Included ClinVar conditions (5):
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
124 15 44 7 19 1 207

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 benign not provided total
AR 111 15 43 6 11 1 184
AR, LOC109504725 13 0 1 1 8 0 23

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 54 9 31 7 12 0 113
OMIM 43 0 0 0 0 0 43
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 37 0 5 0 0 0 42
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 4 0 0 0 5
Mendelics 0 0 2 0 2 0 4
GeneReviews 1 0 0 0 3 0 4
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 2
Department of Medical Genetics,Hue University of Medicine and Pharmacy 2 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Reproductive and Stem Cell Engineering,Central South University 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 1
Institute of Molecular Biology and Genetics,National Academy of Sciences of Ukraine 1 0 0 0 0 0 1
Pediatric Endocrinology Clinic,Ege University School of Medicine 0 1 0 0 0 0 1

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