Submissions for variant NM_002381.5(MATN3):c.187T>G (p.Ser63Ala)

gnomAD frequency: 0.01892  dbSNP: rs3816644

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000320709	SCV000341800	benign	not specified	2016-06-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280278	SCV000426169	benign	Multiple epiphyseal dysplasia type 5	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.
Invitae	RCV000955907	SCV001102644	benign	not provided	2024-01-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000955907	SCV001899905	benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278309	SCV002566912	benign	Connective tissue disorder	2022-02-10	criteria provided, single submitter	clinical testing