ClinVar Miner

Variants studied for Pilarowski-Bjornsson syndrome

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
4 5 50 3 0 62

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 total
CHD1 4 4 48 3 59
CHD1, LOC126807465 0 0 2 0 2
COL4A3, MFF-DT 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Revvity Omics, Revvity 0 0 16 0 16
Baylor Genetics 0 0 8 0 8
New York Genome Center 0 0 5 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 4 0 5
OMIM 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 1
3billion 0 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 1

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