ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.6045C>T (p.Ala2015=)

gnomAD frequency: 0.01962  dbSNP: rs34834388
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000404507 SCV000419118 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 RCV000955983 SCV001102722 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000955983 SCV001739229 benign not provided 2020-03-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000404507 SCV002054899 benign Donnai-Barrow syndrome 2021-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117539 SCV000151757 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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