ClinVar Miner

Variants in gene RPL5

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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 not provided total
6 2 10 12 11 1 34

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Diamond-Blackfan anemia 6 2 1 6 7 9 0 21
Diamond-Blackfan anemia 3 2 4 5 4 0 16
not provided 1 0 1 2 3 1 7
not specified 0 0 0 3 1 0 3
Diamond-Blackfan anemia 1 0 0 0 1 0 0 1
RPL5-related disorder 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 6 3 9 0 18
Labcorp Genetics (formerly Invitae), Labcorp 2 1 4 4 4 0 15
GeneDx 1 0 1 2 2 0 6
Fulgent Genetics, Fulgent Genetics 0 0 0 5 0 0 5
Ambry Genetics 1 1 0 1 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 1 1 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 1 0 2
OMIM 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 0 0 0 1 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Mendelics 0 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Seelig Lab, University of Washington 0 0 0 0 0 1 1

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