ClinVar Miner

Variants studied for familial multiple meningioma

Included ClinVar conditions (11):
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 risk factor total
47 31 629 309 21 5 1039

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
SMARCE1 28 14 425 302 14 4 785
NF2 2 1 84 3 0 0 89
SUFU 0 2 66 0 6 1 75
PTEN 17 11 21 2 1 0 52
LOC130004614, SUFU 0 0 16 0 0 0 16
KLLN, PTEN 0 0 6 0 0 0 6
LOC130004273, PTEN 0 0 5 1 0 0 6
KLLN, LOC130004273, PTEN 0 0 2 1 0 0 3
LOC130004274, PTEN 0 0 2 0 0 0 2
MN1 0 1 1 0 0 0 2
IQCJ-SCHIP1, SCHIP1 0 1 0 0 0 0 1
LOC130067016, LZTR1 0 1 0 0 0 0 1
PDGFB 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Labcorp Genetics (formerly Invitae), Labcorp 26 10 417 302 14 0 769
Baylor Genetics 1 3 183 0 0 0 187
Fulgent Genetics, Fulgent Genetics 13 4 84 6 2 0 109
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 2 7 0 0 0 13
OMIM 0 0 0 0 0 5 5
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 0 0 0 0 5
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 5 0 5
Genetics and Molecular Pathology, SA Pathology 1 2 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Medical Genetics, Meyer Children Hospital 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
3billion, Medical Genetics 0 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1

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