ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.3054C>A (p.Thr1018=)

gnomAD frequency: 0.41290  dbSNP: rs2075249
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000117523 SCV000310425 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369606 SCV000419166 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 RCV001509612 SCV001716433 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001509612 SCV001841398 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000369606 SCV001981432 benign Donnai-Barrow syndrome 2021-08-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117523 SCV000151741 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 RCV000117523 SCV001742195 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000117523 SCV001959398 benign not specified no assertion criteria provided clinical testing

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