ClinVar Miner

Variants studied for periventricular nodular heterotopia 9

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
12 10 28 2 1 50

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
MAP1B 11 10 28 2 1 49
LOC129994023, MAP1B 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
New York Genome Center 0 1 8 0 0 9
OMIM 7 0 0 0 0 7
Baylor Genetics 0 1 2 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 3
3billion 1 2 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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