Submissions for variant NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly)

gnomAD frequency: 0.42236  dbSNP: rs2306029

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000262910	SCV000372156	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515372	SCV001723429	benign	Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001690010	SCV001911185	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23321396, 21121903)
Genome-Nilou Lab	RCV001730661	SCV001981443	benign	Congenital myasthenic syndrome 17	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000262910	SCV001981444	benign	Cenani-Lenz syndactyly syndrome	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730660	SCV001981446	benign	Sclerosteosis 2	2021-08-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001690010	SCV005320229	benign	not provided		criteria provided, single submitter	not provided