Submissions for variant NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala)

gnomAD frequency: 0.00196  dbSNP: rs35413340

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000882366	SCV001025602	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001131855	SCV001291498	uncertain significance	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000882366	SCV001746375	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	LRP2: BP4, BS2
Genome-Nilou Lab	RCV001131855	SCV002055224	likely benign	Donnai-Barrow syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000882366	SCV001798209	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000882366	SCV001957134	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000882366	SCV001969792	likely benign	not provided		no assertion criteria provided	clinical testing