Submissions for variant NM_002334.4(LRP4):c.5165T>A (p.Leu1722His)

gnomAD frequency: 0.01806  dbSNP: rs117936904

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000394967	SCV000372150	likely benign	Cenani-Lenz syndactyly 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000536860	SCV000644113	benign	Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001573884	SCV001871456	benign	not provided	2018-10-05	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573884	SCV001800387	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573884	SCV001930844	likely benign	not provided		no assertion criteria provided	clinical testing