Submissions for variant NM_004525.3(LRP2):c.10937G>A (p.Arg3646His)

gnomAD frequency: 0.00298  dbSNP: rs142549310

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000624161	SCV000740987	likely benign	Inborn genetic diseases	2018-12-13	criteria provided, single submitter	clinical testing
Invitae	RCV000891452	SCV001035271	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001134469	SCV001294216	benign	Donnai-Barrow syndrome	2017-08-05	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.
Institute of Human Genetics, University of Leipzig Medical Center	RCV001134469	SCV001440411	uncertain significance	Donnai-Barrow syndrome	2019-01-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001134469	SCV002054696	likely benign	Donnai-Barrow syndrome	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000891452	SCV004147243	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	LRP2: BS2
PreventionGenetics, part of Exact Sciences	RCV003915031	SCV004736637	benign	LRP2-related disorder	2019-05-29	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000891452	SCV001742288	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000891452	SCV001800149	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000891452	SCV001968907	likely benign	not provided		no assertion criteria provided	clinical testing