Submissions for variant NM_000089.4(COL1A2):c.1521C>T (p.Asn507=)

gnomAD frequency: 0.00005  dbSNP: rs747938841

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000842300	SCV000984308	likely benign	not provided	2018-04-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000842300	SCV001143197	likely benign	not provided	2018-09-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000842300	SCV001471937	likely benign	not provided	2020-06-22	criteria provided, single submitter	clinical testing
Invitae	RCV002235140	SCV001608828	likely benign	Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1	2023-04-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390728	SCV002705322	likely benign	Cardiovascular phenotype	2022-07-06	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.
CeGaT Center for Human Genetics Tuebingen	RCV000842300	SCV004185464	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	COL1A2: BP4, BP7