ClinVar Miner

Variants studied for Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
17 25 16 3 8 63

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
POR 16 24 14 3 7 59
LOC126860075, POR 1 1 1 0 1 3
LOC129998680, POR 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 7 21 7 0 0 35
OMIM 10 0 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 5 1 1 9
Genome-Nilou Lab 0 0 0 0 6 6
3billion 0 1 0 1 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Mendelics 0 0 0 0 1 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1

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