Submissions for variant NM_182943.3(PLOD2):c.2229T>C (p.Pro743=)

gnomAD frequency: 0.00458  dbSNP: rs78976445

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000966888	SCV001114247	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001145154	SCV001305796	benign	Bruck syndrome 2	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000966888	SCV001755888	benign	not provided	2018-12-17	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279673	SCV002564978	likely benign	Osteogenesis imperfecta	2021-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000966888	SCV004034025	benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	PLOD2: BP4, BP7, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001145154	SCV004562348	benign	Bruck syndrome 2	2023-03-16	criteria provided, single submitter	clinical testing