ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.1172-8G>A

gnomAD frequency: 0.00955  dbSNP: rs115371758
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000117503 SCV000310414 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000954236 SCV001100855 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001129718 SCV001289261 benign Donnai-Barrow syndrome 2018-01-13 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.
Genome-Nilou Lab RCV001129718 SCV002055563 benign Donnai-Barrow syndrome 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954236 SCV004147291 benign not provided 2023-11-01 criteria provided, single submitter clinical testing LRP2: BP4, BS1, BS2
Genetic Services Laboratory, University of Chicago RCV000117503 SCV000151721 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.

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