ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly)

gnomAD frequency: 0.00834  dbSNP: rs79723119
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000313258 SCV000419039 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.
Invitae RCV000972640 SCV001120362 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000313258 SCV002054234 benign Donnai-Barrow syndrome 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000972640 SCV002567568 likely benign not provided 2022-08-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV000972640 SCV004011241 benign not provided 2024-02-01 criteria provided, single submitter clinical testing LRP2: BP4, BS1, BS2
Genetic Services Laboratory, University of Chicago RCV000117505 SCV000151723 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 RCV000313258 SCV000734155 benign Donnai-Barrow syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000117505 SCV001928334 benign not specified no assertion criteria provided clinical testing

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