Submissions for variant NM_002334.4(LRP4):c.3817C>A (p.Arg1273=)

gnomAD frequency: 0.00385  dbSNP: rs61746928

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192848	SCV000247872	benign	not specified	2017-02-13	criteria provided, single submitter	clinical testing
Invitae	RCV000555565	SCV000644106	benign	Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001107104	SCV001264234	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV001657981	SCV001873948	likely benign	not provided	2021-09-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001657981	SCV004130070	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	LRP4: BP4, BS2