ClinVar Miner

Variants studied for Legius syndrome

Coded as:
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
104 27 353 179 34 2 689

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SPRED1 102 27 350 178 33 2 682
LOC130056789, SPRED1 0 0 2 1 0 0 3
LOC130056788, SPRED1 0 0 1 0 1 0 2
FAM98B, LINC02694, LOC105370781, LOC126862106, LOC126862107, LOC126862108, LOC129390685, LOC130056790, LOC130056791, LOC130056792, LOC130056793, LOC130056794, LOC130056795, LOC130056796, LOC130056797, LOC130056798, LOC130056799, LOC130056800, LOC130056801, LOC130056802, LOC130056803, LOC130056804, LOC130056805, LOC130056806, RASGRP1, SPRED1 1 0 0 0 0 0 1
LOC129390685, SPRED1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 92 12 262 157 14 0 537
Illumina Laboratory Services, Illumina 0 0 90 23 22 0 135
Center for Human Genetics, Inc, Center for Human Genetics, Inc 6 3 1 0 0 0 10
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 7 0 10
OMIM 9 0 0 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 6 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 0 0 0 0 4
GeneReviews 0 0 0 0 2 2 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 4 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Baylor Genetics 1 0 2 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 3 0 0 0 3
Revvity Omics, Revvity 0 0 3 0 0 0 3
MGZ Medical Genetics Center 0 3 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
3billion 1 2 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Mendelics 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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