Submissions for variant NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=)

gnomAD frequency: 0.00431  dbSNP: rs41316725

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001085794	SCV000627267	benign	Osteogenesis imperfecta type I	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000610149	SCV000730942	benign	not specified	2017-07-17	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	RCV000710773	SCV000841076	benign	not provided	2018-06-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710773	SCV001477907	benign	not provided	2022-09-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002330828	SCV002631774	benign	Cardiovascular phenotype	2019-06-19	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000610149	SCV001977655	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710773	SCV001978410	likely benign	not provided		no assertion criteria provided	clinical testing