ClinVar Miner

Variants in gene LAMA5

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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 not provided total
14 30 1090 930 354 114 2323

Condition and significance breakdown #

Total conditions: 48
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 0 0 487 764 352 0 1535
Inborn genetic diseases 1 0 676 96 0 0 773
LAMA5-related disorder 1 0 79 209 38 0 327
not specified 0 0 5 7 76 0 86
Nephrotic syndrome, IIa 26 9 9 19 0 0 0 36
Ovarian serous cystadenocarcinoma 0 0 0 0 0 29 29
Lung cancer 0 0 0 0 0 18 18
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 17 17
Cervical cancer 0 0 0 0 0 15 15
Malignant tumor of esophagus 0 0 0 0 0 15 15
Familial cancer of breast 0 0 0 0 0 14 14
Gastric cancer 0 0 0 0 0 14 14
Nephrotic syndrome 0 8 7 0 0 0 14
Uterine corpus endometrial carcinoma 0 0 0 0 0 14 14
Sarcoma 0 0 0 0 0 10 10
Thymoma 0 0 0 0 0 9 9
Short stature 0 4 3 0 0 0 7
Clear cell carcinoma of kidney 0 0 0 0 0 6 6
Colon adenocarcinoma 0 0 0 0 0 6 6
Nonpapillary renal cell carcinoma 0 0 0 0 0 6 6
Uterine carcinosarcoma 0 0 0 0 0 5 5
Bent bone dysplasia syndrome 2 2 0 1 1 0 0 4
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Nephrotic syndrome, IIa 26; Bent bone dysplasia syndrome 2 0 4 0 0 0 0 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Adrenocortical carcinoma, hereditary 0 0 0 0 0 3 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
Papillary renal cell carcinoma type 1 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 2 2
Colorectal cancer 0 0 0 0 0 2 2
Holoprosencephaly sequence; Severe hydrocephalus 0 0 2 0 0 0 2
Multiple sclerosis 0 2 0 0 0 0 2
Polymicrogyria 0 0 2 0 0 0 2
Presynaptic congenital myasthenic syndrome 0 1 1 0 0 0 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Uveal melanoma 0 0 0 0 0 2 2
distinct bent bone dysplasia 0 2 0 0 0 0 2
Congenital omphalocele 0 0 1 0 0 0 1
Developmental disorder 0 1 0 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Familial hematuria 1 0 0 0 0 0 1
Focal segmental glomerulosclerosis 0 0 1 0 0 0 1
High myopia 0 0 1 0 0 0 1
LAMA5-related multisystemic syndrome 0 0 1 0 0 0 1
Macroscopic hematuria 0 0 1 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Prostate cancer 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 406 681 271 0 1358
Ambry Genetics 1 0 676 96 0 0 773
PreventionGenetics, part of Exact Sciences 0 0 79 209 38 0 326
Breakthrough Genomics, Breakthrough Genomics 0 0 9 20 192 0 221
CeGaT Center for Human Genetics Tuebingen 0 0 48 117 13 0 178
GeneDx 0 0 46 1 128 0 175
Mayo Clinic Laboratories, Mayo Clinic 0 0 23 30 75 0 128
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 114 114
OMIM 9 0 2 0 0 0 11
3billion 1 2 7 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 4 4 0 0 10
Precision Medicine Center, Zhengzhou University 0 8 0 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 6 0 0 0 8
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 4 3 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 4 2 0 0 7
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 4 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 0 0 3 0 0 0 3
Center for Reproductive Medicine, Peking University Third Hospital 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Department of Molecular Biology and Genetics, Acibadem University 0 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Mendelics 0 0 1 0 1 0 2
Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitari Son Espases/IbSalut 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Baylor Genetics 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Institute of Human Genetics, Polish Academy of Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Molecular Medicine Research Center, University of Cyprus 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1

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