ClinVar Miner

Variants studied for Deficiency of steroid 17-alpha-monooxygenase

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 not provided total
5 2 1 0 0 2 9

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
CYP17A1 5 2 1 2 9

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Genetic Services Laboratory, University of Chicago 1 1 0 0 2
Fulgent Genetics,Fulgent Genetics 2 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 1 0 1 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 1

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