ClinVar Miner

Variants studied for familial multiple meningioma

Included ClinVar conditions (10):
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
39 28 562 271 20 5 922

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 24 12 387 264 13 4 702
NF2 2 1 72 3 0 0 77
SUFU 0 2 60 0 6 1 69
PTEN 13 10 15 2 1 0 41
LOC130004614, SUFU 0 0 14 0 0 0 14
KLLN, PTEN 0 0 6 0 0 0 6
LOC130004273, PTEN 0 0 3 1 0 0 4
KLLN, LOC130004273, PTEN 0 0 2 1 0 0 3
MN1 0 1 1 0 0 0 2
IQCJ-SCHIP1, SCHIP1 0 1 0 0 0 0 1
LOC130004274, PTEN 0 0 1 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 22 8 380 264 13 0 687
Baylor Genetics 1 3 183 0 0 0 187
Fulgent Genetics, Fulgent Genetics 9 3 43 6 2 0 63
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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 0 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1

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