ClinVar Miner

Variants in gene LAMC2

Minimum submission review status: Collection method:
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Gene type:
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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 72 111 156 56 395

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 33 10 10 140 27 215
Junctional epidermolysis bullosa 8 2 98 18 34 159
Junctional epidermolysis bullosa gravis of Herlitz 7 61 7 3 0 76
not specified 0 0 0 2 11 12
Junctional epidermolysis bullosa, non-Herlitz type 3 0 0 0 0 3
Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 31 9 0 139 27 206
Illumina Clinical Services Laboratory,Illumina 0 1 98 18 34 151
Counsyl 0 48 7 3 0 58
Myriad Women's Health, Inc. 1 13 0 0 0 14
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 1 3 9
OMIM 8 0 0 0 0 8
PreventionGenetics, PreventionGenetics 0 0 0 0 8 8
Integrated Genetics/Laboratory Corporation of America 5 1 0 0 0 6
Biomedical Innovation Departament, CIEMAT 6 0 0 0 0 6
GeneDx 2 1 1 1 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
Baylor Genetics 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 0 1
GeneReviews 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1

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