ClinVar Miner

Variants in gene LAMA3

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
17 72 131 12 13 240

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Junctional epidermolysis bullosa gravis of Herlitz 7 70 66 2 0 145
Laryngoonychocutaneous syndrome 1 0 61 7 9 78
Epidermolysis bullosa, junctional 0 0 61 7 9 77
not provided 8 2 7 0 0 17
not specified 0 0 0 3 11 14
Adult junctional epidermolysis bullosa 2 0 1 0 0 3
Idiopathic fibrosing alveolitis, chronic form 0 0 1 0 0 1
LAMA3-Related Disorders 0 0 1 0 0 1
Laryngoonychocutaneous syndrome; Junctional epidermolysis bullosa gravis of Herlitz; Adult junctional epidermolysis bullosa 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 4 70 64 2 0 140
Illumina Clinical Services Laboratory,Illumina 0 0 62 7 9 78
GeneDx 7 2 3 1 0 13
PreventionGenetics 0 0 0 2 7 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 8 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 4 0 1 6
OMIM 4 0 0 0 0 4
GeneReviews 2 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Fulgent Genetics 1 0 0 0 0 1
Molecular Biology of the Cell Laboratory,University of Mazandaran 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Department of Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.