ClinVar Miner

Variants studied for Norman-Roberts syndrome

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
50 17 1403 1373 201 2 2885

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
RELN 43 15 1099 1051 159 2 2238
RELN, SLC26A5 5 2 247 238 30 0 498
LOC126860130, RELN, SLC26A5 1 0 38 50 7 0 93
LOC126860131, RELN 0 0 18 34 5 0 54
DNAJC2, PMPCB, PSMC2, RELN, SLC26A5 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 38 14 1220 1343 188 0 2803
Illumina Laboratory Services, Illumina 0 0 146 22 49 0 217
Fulgent Genetics, Fulgent Genetics 0 0 55 20 3 0 78
Revvity Omics, Revvity 1 1 21 0 0 0 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 10 0 13
Genome-Nilou Lab 0 0 0 0 11 0 11
Baylor Genetics 0 0 9 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 6 1 1 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
Genetic Services Laboratory, University of Chicago 5 0 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
OMIM 3 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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