Submissions for variant NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=)

gnomAD frequency: 0.00044  dbSNP: rs147743501

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000604486	SCV000727642	likely benign	not specified	2018-02-12	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	RCV000631509	SCV000752591	likely benign	Osteogenesis imperfecta type I	2024-01-25	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680478	SCV000807856	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001310366	SCV001500134	likely benign	not provided	2020-09-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279429	SCV002564719	likely benign	Osteogenesis imperfecta	2019-01-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279430	SCV002565509	likely benign	Ehlers-Danlos syndrome	2022-06-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002325177	SCV002605970	likely benign	Cardiovascular phenotype	2019-06-07	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001310366	SCV004563188	likely benign	not provided	2023-10-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004547742	SCV004759203	likely benign	COL1A1-related disorder	2022-08-31	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001310366	SCV002035749	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001310366	SCV002038484	likely benign	not provided		no assertion criteria provided	clinical testing