ClinVar Miner

Variants in gene SGPL1

Minimum submission review status: Collection method:
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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 not provided total
19 10 117 137 29 1 306

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 10 4 84 133 29 0 258
Inborn genetic diseases 0 1 39 0 0 0 40
Nephrotic syndrome 14 11 3 10 2 5 1 31
SGPL1-related disorder 0 0 0 11 0 0 11
not specified 0 0 2 3 1 0 6
Nephrotic syndrome 0 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 10 3 83 130 14 0 240
Ambry Genetics 0 1 39 0 0 0 40
GeneDx 1 2 3 1 21 0 28
Breakthrough Genomics, Breakthrough Genomics 0 0 1 1 18 0 20
PreventionGenetics, part of Exact Sciences 0 0 0 11 0 0 11
OMIM 9 0 0 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 2 3 0 0 6
Baylor Genetics 1 0 4 0 0 0 5
CeGaT Center for Human Genetics Tuebingen 0 0 2 2 1 0 5
Genome-Nilou Lab 0 0 0 0 4 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 1 0 1 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 1 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
3billion 0 0 0 1 0 0 1
Suma Genomics 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Pediatric Department, Iran University of Medical Sciences 0 0 1 0 0 0 1

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