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
43 80 176 243 53 554

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 30 12 15 232 36 320
Junctional epidermolysis bullosa gravis of Herlitz 8 71 156 10 20 264
Laryngo-onycho-cutaneous syndrome 1 0 97 9 19 126
not specified 0 0 0 3 11 14
Junctional epidermolysis bullosa 3 0 3 0 0 6
Junctional epidermolysis bullosa, non-Herlitz type 2 1 3 0 0 6
Idiopathic Pulmonary Fibrosis 0 0 1 0 0 1
LAMA3-Related Disorders 0 0 1 0 0 1
Laryngo-onycho-cutaneous syndrome; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 22 10 0 231 36 299
Counsyl 3 71 64 2 0 140
Illumina Clinical Services Laboratory,Illumina 0 0 98 9 20 126
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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 5 1 0 6
Integrated Genetics/Laboratory Corporation of America 3 0 0 0 2 5
OMIM 4 0 0 0 0 4
Baylor Genetics 1 0 2 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 3
Biomedical Innovation Departament, CIEMAT 3 0 0 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
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
Myriad Women's Health, Inc. 1 0 0 0 0 1

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