ClinVar Miner

Variants studied for Marinesco-Sjögren 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 total
24 9 146 118 18 295

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SIL1 24 9 141 117 18 289
LOC129994751, SIL1 0 0 4 1 0 5
EIF2A 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 15 3 88 113 17 236
Revvity Omics, Revvity 2 2 52 0 0 56
Illumina Laboratory Services, Illumina 1 0 32 6 8 47
OMIM 10 0 0 0 0 10
Baylor Genetics 2 0 3 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 4
3billion 1 0 2 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Mendelics 0 1 0 1 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 1 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Genome-Nilou Lab 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.