Submissions for variant NM_000089.4(COL1A2):c.2700C>T (p.Ala900=)

gnomAD frequency: 0.00235  dbSNP: rs141688356

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029597	SCV000052249	likely benign	Osteogenesis imperfecta	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Likely benign.
GeneDx	RCV000427067	SCV000528612	benign	not specified	2016-11-25	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.
Invitae	RCV000631544	SCV000752626	benign	Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1	2024-01-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811202	SCV001474171	benign	not provided	2023-04-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426521	SCV002742134	likely benign	Cardiovascular phenotype	2019-05-29	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	RCV001811202	SCV004701164	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	COL1A2: BP4, BP7, BS2