Submissions for variant NM_000089.4(COL1A2):c.2754C>T (p.Asn918=)

gnomAD frequency: 0.00020  dbSNP: rs375719762

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002231238	SCV000627321	likely benign	Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000543162	SCV001155150	likely benign	not provided	2021-03-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002438297	SCV002752138	likely benign	Cardiovascular phenotype	2021-09-22	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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000543162	SCV001809630	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000543162	SCV001966209	likely benign	not provided		no assertion criteria provided	clinical testing