ClinVar Miner

Variants in gene LMNB2

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Minimum submission review status: Collection method:
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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 not provided total
4 1 280 250 66 4 4 573

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 0 0 225 235 39 0 0 499
not specified 0 0 68 11 4 0 0 81
not provided 0 0 20 24 33 0 4 76
LMNB2-related disorder 1 0 5 11 1 0 0 18
Progressive myoclonic epilepsy type 9 1 0 7 0 1 0 0 9
Microcephaly 27, primary, autosomal dominant 3 0 3 0 0 0 0 6
Acquired partial lipodystrophy 0 0 0 1 0 4 0 4
Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to; Microcephaly 27, primary, autosomal dominant 0 0 3 1 0 0 0 4
Lipodystrophy, partial, acquired, susceptibility to 0 1 1 0 0 0 0 2
Generalized myoclonic seizure 0 0 1 0 0 0 0 1
Lipodystrophy, partial, acquired, susceptibility to; Microcephaly 27, primary, autosomal dominant 0 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 0 1
See cases 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 225 238 39 0 0 502
Ambry Genetics 0 0 60 4 0 0 0 64
GeneDx 0 0 0 0 27 0 0 27
Breakthrough Genomics, Breakthrough Genomics 0 0 2 9 16 0 0 27
CeGaT Center for Human Genetics Tuebingen 0 0 8 14 1 0 0 23
PreventionGenetics, part of Exact Sciences 1 0 5 11 1 0 0 18
Athena Diagnostics 0 0 7 3 6 0 0 16
Genetic Services Laboratory, University of Chicago 0 0 4 5 0 0 0 9
OMIM 3 0 0 0 0 4 0 7
Baylor Genetics 0 0 6 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 1 0 0 0 6
Epithelial Biology; Institute of Medical Biology, Singapore 0 0 0 0 0 0 4 4
Mendelics 0 0 1 0 1 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 0 1
Medical Genetics Department, Assistance Publique Hopitaux de Marseille 1 0 0 0 0 0 0 1
Human Genetics Department, Tarbiat Modares University 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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