Submissions for variant NM_004525.3(LRP2):c.10804G>A (p.Ala3602Thr)

gnomAD frequency: 0.01045  dbSNP: rs144081819

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514467	SCV000610119	likely benign	not provided	2017-02-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514467	SCV001034438	benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001135933	SCV001295745	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab	RCV001135933	SCV002054311	benign	Donnai-Barrow syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000514467	SCV005256551	likely benign	not provided		criteria provided, single submitter	not provided
GeneDx	RCV000514467	SCV005370522	likely benign	not provided	2024-10-03	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Genetic Services Laboratory, University of Chicago	RCV000117499	SCV000151717	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.