ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.11092G>A (p.Val3698Met)

gnomAD frequency: 0.00560  dbSNP: rs34355135
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000244401 SCV000151718 likely benign not specified 2016-11-10 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000117500 SCV000281396 likely benign not provided 2015-04-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences RCV000244401 SCV000310411 benign not specified criteria provided, single submitter clinical testing
Baylor Genetics RCV000679855 SCV000807205 likely benign Donnai-Barrow syndrome 2017-12-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000117500 SCV001104369 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000117500 SCV001152544 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing LRP2: BS2
Illumina Laboratory Services, Illumina RCV000679855 SCV001294212 benign Donnai-Barrow syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000117500 SCV002028403 likely benign not provided 2021-05-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30900415, 26118977, 31216405)
Genome-Nilou Lab RCV000679855 SCV002054300 benign Donnai-Barrow syndrome 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000679855 SCV002805054 likely benign Donnai-Barrow syndrome 2021-07-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000117500 SCV005256550 likely benign not provided criteria provided, single submitter not provided

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