ClinVar Miner

Variants studied for Marinesco-Sjogren syndrome

Included ClinVar conditions (1):
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
22 7 143 99 18 270

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SIL1 22 7 139 98 18 265
LOC129994751, SIL1 0 0 4 1 0 5

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 3 88 94 17 214
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 1 1 0 0 0 2
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
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
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 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1

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