ClinVar Miner

Variants studied for 3 beta-Hydroxysteroid dehydrogenase deficiency

Coded as:
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Gene type:
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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
20 10 38 26 11 89

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 total
HSD3B2 16 9 36 23 11 81
HSD3B2, LOC109029530 4 1 2 3 0 8

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 8 1 3 23 7 42
Illumina Laboratory Services, Illumina 0 0 27 0 6 33
Fulgent Genetics, Fulgent Genetics 5 2 3 8 0 18
OMIM 10 0 0 0 0 10
Clinical Biochemistry Laboratory, Health Services Laboratory 5 2 1 0 0 8
Revvity Omics, Revvity Omics 1 2 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 2
Genome-Nilou Lab 1 0 1 0 0 2
3billion 1 1 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 1
Pars Genome Lab 0 0 1 0 0 1

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