Submissions for variant NM_002334.4(LRP4):c.1494C>T (p.Asn498=)

gnomAD frequency: 0.00221  dbSNP: rs61749083

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000358736	SCV000340043	benign	not specified	2016-03-07	criteria provided, single submitter	clinical testing
Invitae	RCV000535537	SCV000644093	benign	Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17	2024-01-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001107849	SCV001265034	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.
GeneDx	RCV001560869	SCV001783362	likely benign	not provided	2021-06-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543086	SCV004759306	likely benign	LRP4-related disorder	2020-02-03	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).