ClinVar Miner

Variants studied for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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
39 5 26 6 7 79

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SRD5A2 39 5 26 6 7 79

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 23 0 6 0 0 29
Invitae 15 2 5 0 3 25
Illumina Clinical Services Laboratory,Illumina 0 0 14 6 4 24
OMIM 13 0 0 0 0 13
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 3 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Institute of Reproductive and Stem Cell Engineering,Central South University 2 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 1

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