ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala)

gnomAD frequency: 0.00201  dbSNP: rs142245618
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194974 SCV000247860 uncertain significance not specified 2014-05-23 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000194974 SCV000257980 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349771 SCV000419011 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000487704 SCV000575260 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing LRP2: BP4, BS2
Invitae RCV000487704 SCV001035908 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000349771 SCV002054529 likely benign Donnai-Barrow syndrome 2021-07-15 criteria provided, single submitter clinical testing

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