ClinVar Miner

Variants studied for Schimke immuno-osseous dysplasia

Coded as:
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 total
41 15 140 125 22 311

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
SMARCAL1 41 15 137 125 21 307
LOC112806077, SMARCAL1 0 0 3 0 1 4

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 31 8 85 117 18 259
Illumina Clinical Services Laboratory,Illumina 1 0 38 7 12 58
Natera, Inc. 3 0 26 11 14 54
OMIM 8 0 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 2 1 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Baylor Genetics 0 0 2 0 0 2
Institute of Human Genetics,Cologne University 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Broad Institute Rare Disease Group, Broad Institute 1 0 1 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 1 1 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 1
Department of Medical Genetics,Faculty of Medicine, Istanbul University 1 0 0 0 0 1

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