ClinVar Miner

Variants studied for holoprosencephaly 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
23 14 254 217 80 557

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GLI2 23 14 254 217 80 557

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 11 2 191 190 64 458
Illumina Laboratory Services, Illumina 0 0 59 40 41 140
Fulgent Genetics, Fulgent Genetics 0 1 4 3 2 10
Genome-Nilou Lab 0 0 0 0 9 9
OMIM 7 0 0 0 0 7
New York Genome Center 0 0 6 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 1 4 0 0 0 5
Baylor Genetics 3 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 1 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Mendelics 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 1
3billion 0 1 0 0 0 1

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