ClinVar Miner

Variants studied for Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete

Coded as:
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
9 1 2 0 0 12

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CYP11A1 9 1 2 12

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 9 0 0 9
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 1 2
Illumina Clinical Services Laboratory,Illumina 0 0 1 1

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