ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu)

gnomAD frequency: 0.78613  dbSNP: rs2075252
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000117508 SCV000310415 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000310751 SCV000419036 benign Donnai-Barrow syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001515149 SCV001723161 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001515149 SCV001941262 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30476138)
Genome-Nilou Lab RCV000310751 SCV001981420 benign Donnai-Barrow syndrome 2021-08-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000117508 SCV002050705 benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000117508 SCV000151726 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000117508 SCV001741101 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000117508 SCV001957832 benign not specified no assertion criteria provided clinical testing

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