ClinVar Miner

Variants studied for cobblestone lissencephaly

Included ClinVar conditions (3):
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 not provided total
17 9 364 209 15 2 611

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DAG1 8 2 333 208 14 2 562
LAMB1 8 7 31 1 0 0 47
AMT, ARIH2, ARIH2OS, C3orf62, CCDC71, CIMIP7, DAG1, DALRD3, GPX1, IHO1, IMPDH2, KLHDC8B, LAMB2, MIR191, NDUFAF3, NICN1, P4HTM, QARS1, QRICH1, RHOA, SLC25A20, TCTA, USP19, USP4, WDR6 1 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 7 2 329 207 13 0 558
Revvity Omics, Revvity 1 0 14 0 0 0 15
Baylor Genetics 1 0 10 0 0 0 11
Fulgent Genetics, Fulgent Genetics 0 0 5 1 1 0 7
OMIM 6 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 3 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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