Submissions for variant NM_182943.3(PLOD2):c.2106G>C (p.Val702=)

gnomAD frequency: 0.00288  dbSNP: rs147997412

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000884708	SCV001028104	benign	not provided	2024-01-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001145156	SCV001305798	benign	Bruck syndrome 2	2018-01-13	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	RCV000884708	SCV001779537	likely benign	not provided	2021-05-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279607	SCV002564976	likely benign	Osteogenesis imperfecta	2021-01-08	criteria provided, single submitter	clinical testing