ClinVar Miner

Variants in gene RPS7

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
7 6 93 91 30 215

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Diamond-Blackfan anemia 8 6 6 81 75 13 176
not provided 0 0 7 8 20 35
Diamond-Blackfan anemia 1 0 4 12 0 17
RPS7-related disorder 0 0 2 6 0 8
not specified 0 0 4 1 3 8

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 2 2 55 74 8 141
GeneDx 0 0 5 7 20 32
Fulgent Genetics, Fulgent Genetics 0 0 20 6 0 26
Breakthrough Genomics, Breakthrough Genomics 0 0 0 6 18 24
Illumina Laboratory Services, Illumina 0 0 7 4 6 17
Ambry Genetics 1 0 3 10 0 14
PreventionGenetics, part of Exact Sciences 0 0 2 6 0 8
Genetic Services Laboratory, University of Chicago 0 0 3 1 1 5
Revvity Omics, Revvity 0 0 5 0 0 5
Baylor Genetics 1 0 2 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 1 3
OMIM 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 2
GeneReviews 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 1 0 0 1
Research Group Niklas Dahl, Uppsala University 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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