ClinVar Miner

Variants studied for Hypotrichosis 8

Coded as:
Minimum submission review status: Collection method:
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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
12 14 3 0 0 21

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
LPAR6, RB1 11 14 3 20
KRT25 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance total
SIB Swiss Institute of Bioinformatics 0 7 2 9
OMIM 6 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 2 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 2
Baylor Genetics 0 1 0 1
Mendelics 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 0 1
3billion 0 1 0 1

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