Submissions for variant NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=)

gnomAD frequency: 0.00578  dbSNP: rs41316723

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000423865	SCV000524258	benign	not specified	2016-10-24	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084116	SCV000627260	benign	Osteogenesis imperfecta type I	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710772	SCV000841075	benign	not provided	2018-03-12	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710772	SCV001477908	benign	not provided	2022-09-16	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278677	SCV002565531	likely benign	Ehlers-Danlos syndrome	2020-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002323613	SCV002632469	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000710772	SCV005249946	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000423865	SCV001977669	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710772	SCV001978394	likely benign	not provided		no assertion criteria provided	clinical testing