ClinVar Miner

Variants in gene combination LOC126860075, POR

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Minimum submission review status: Collection method:
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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
7 1 26 58 9 1 91

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 7 0 22 52 4 1 79
not provided 1 0 5 8 4 0 16
POR-related disorder 1 0 1 3 0 0 5
Inborn genetic diseases 0 0 2 1 0 0 3
not specified 0 0 1 0 2 0 3
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 1 0 1 0 1 0 2
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 1 1 0 0 0 0 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 0 0 0 1 0 0 1
Disorder of sexual differentiation 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 7 0 13 52 4 0 76
GeneDx 1 0 3 4 4 0 12
Illumina Laboratory Services, Illumina 0 0 10 0 0 0 10
PreventionGenetics, part of Exact Sciences 1 0 1 3 0 0 5
Breakthrough Genomics, Breakthrough Genomics 0 0 1 1 2 0 4
Ambry Genetics 0 0 2 1 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 2 0 3
Fulgent Genetics, Fulgent Genetics 1 1 0 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 0 2 0 0 2
OMIM 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 1
Pecori Giraldi Lab, University of Milan 0 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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