Submissions for variant NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp)

gnomAD frequency: 0.02496  dbSNP: rs34291900

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000117514	SCV000297163	benign	not specified	2015-08-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117514	SCV000310419	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000314536	SCV000419182	benign	Donnai-Barrow syndrome	2018-03-06	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	RCV001521943	SCV001731382	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001521943	SCV001872181	benign	not provided	2020-12-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21303902)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000117514	SCV002050953	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000314536	SCV002055552	benign	Donnai-Barrow syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117514	SCV000151732	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.