ClinVar Miner

Variants studied for Merosin deficient congenital muscular dystrophy

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
54 81 78 21 16 5 242

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LAMA2 54 81 78 21 16 5 242

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 16 72 64 20 0 0 172
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 25 0 0 0 0 0 25
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 11 0 12
OMIM 10 0 0 0 0 0 10
Athena Diagnostics Inc 0 0 0 0 10 0 10
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 0 7 0 0 0 10
GeneReviews 5 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 0 3
Mendelics 1 1 0 0 0 0 2
Fulgent Genetics 0 0 2 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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