Submissions for variant NM_004525.3(LRP2):c.5209C>T (p.Leu1737Phe)

gnomAD frequency: 0.00126  dbSNP: rs149469954

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192605	SCV000247866	uncertain significance	not specified	2014-09-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000657949	SCV000779719	likely benign	not provided	2020-01-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25533962)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000657949	SCV001055254	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001132932	SCV001292616	likely benign	Donnai-Barrow syndrome	2017-05-22	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab	RCV001132932	SCV002055324	likely benign	Donnai-Barrow syndrome	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000657949	SCV004147273	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	LRP2: BS2
PreventionGenetics, part of Exact Sciences	RCV003917755	SCV004737299	benign	LRP2-related disorder	2019-12-12	no assertion criteria provided	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).