Submissions for variant NM_000089.4(COL1A2):c.1008C>T (p.Ala336=)

gnomAD frequency: 0.00040  dbSNP: rs138357977

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000597506	SCV000703773	uncertain significance	not provided	2016-12-02	criteria provided, single submitter	clinical testing
Invitae	RCV002232231	SCV001674196	likely benign	Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1	2024-01-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000597506	SCV001788454	likely benign	not provided	2020-10-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002456301	SCV002735801	likely benign	Cardiovascular phenotype	2021-12-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000597506	SCV003799986	likely benign	not provided	2022-09-16	criteria provided, single submitter	clinical testing