ClinVar Miner

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

gnomAD frequency: 0.00077  dbSNP: rs72658163
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Total submissions: 11
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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
Labcorp Genetics (formerly Invitae), Labcorp 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

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