ClinVar Miner

Variants in gene LAMA3

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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 total
20 74 134 125 49 366

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 11 3 10 113 36 169
Junctional epidermolysis bullosa gravis of Herlitz 7 71 66 2 0 146
Laryngoonychocutaneous syndrome 1 0 61 7 9 78
Epidermolysis bullosa, junctional 0 0 61 7 9 77
not specified 0 0 0 3 11 14
Adult junctional epidermolysis bullosa 2 1 1 0 0 4
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: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 1 0 113 36 153
Counsyl 4 71 64 2 0 141
Illumina Clinical Services Laboratory,Illumina 0 0 62 7 9 78
GeneDx 7 2 3 1 0 13
PreventionGenetics,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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 3
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,Fulgent Genetics 1 0 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 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

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