Submissions for variant NM_182943.3(PLOD2):c.652A>G (p.Ile218Val)

gnomAD frequency: 0.00344  dbSNP: rs145809663

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000359631	SCV000331858	benign	not specified	2016-07-28	criteria provided, single submitter	clinical testing
Invitae	RCV000960137	SCV001107087	benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000960137	SCV001154081	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	PLOD2: BS2
Illumina Laboratory Services, Illumina	RCV001148012	SCV001308872	likely benign	Bruck syndrome 2	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000960137	SCV001885569	benign	not provided	2019-06-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278260	SCV002564984	likely benign	Osteogenesis imperfecta	2022-03-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001148012	SCV004564141	likely benign	Bruck syndrome 2	2023-09-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920035	SCV004730692	likely benign	PLOD2-related condition	2019-11-12	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000960137	SCV001798410	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000359631	SCV001807078	benign	not specified		no assertion criteria provided	clinical testing