ClinVar Miner

Variants studied for Marinesco-Sjögren syndrome

Coded as:
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Gene type:
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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 9 145 118 18 294

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SIL1 24 9 140 117 18 288
LOC129994751, SIL1 0 0 4 1 0 5
EIF2A 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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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 33 6 8 48
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 3
Mendelics 0 1 0 1 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 1 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion, Medical Genetics 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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