Submissions for variant NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)

gnomAD frequency: 0.00077  dbSNP: rs72658163

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001200183	SCV000490478	likely benign	not provided	2021-02-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 9923651, 1978725, 15172002, 26432670, 26264438, 27011056, 28017821, 30283886, 30283887, 33195954)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000413739	SCV000603113	uncertain significance	not specified	2016-08-01	criteria provided, single submitter	clinical testing
Invitae	RCV002228038	SCV000627306	likely benign	Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1	2024-01-29	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680486	SCV000807864	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001162670	SCV001324631	benign	Osteogenesis imperfecta	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001162671	SCV001324632	likely benign	Ehlers-danlos syndrome, arthrochalasia type, 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV001200183	SCV001371079	uncertain significance	not provided	2020-05-01	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001330774	SCV001522566	uncertain significance	Postmenopausal osteoporosis	2019-12-03	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics	RCV002415422	SCV002729934	likely benign	Cardiovascular phenotype	2021-11-05	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.
Revvity Omics, Revvity	RCV001200183	SCV003828105	uncertain significance	not provided	2023-11-06	criteria provided, single submitter	clinical testing
OMIM	RCV000018790	SCV000039073	uncertain significance	Marfan syndrome, atypical	2004-06-01	no assertion criteria provided	literature only