ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.2092G>A (p.Ala698Thr) (rs1800255)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000177438 SCV000167842 benign not specified 2012-11-13 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177438 SCV000229294 benign not specified 2014-12-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000177438 SCV000268913 benign not specified 2014-11-20 criteria provided, single submitter clinical testing p.Ala698Thr in exon 30 of COL3A1: This variant is not expected to have clinical significance because it has been identified in 25% (2190/8600) of European Ameri can chromosomes and 13% (592/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs1800255).
PreventionGenetics,PreventionGenetics RCV000177438 SCV000302032 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251322 SCV000317703 benign Cardiovascular phenotype 2014-11-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000395000 SCV000425527 benign Ehlers-Danlos syndrome, type 4 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755496 SCV000603131 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Color RCV000775991 SCV000910517 benign Thoracic aortic aneurysm and aortic dissection 2018-03-15 criteria provided, single submitter clinical testing
OMIM RCV000018745 SCV000039028 benign COLLAGEN TYPE III POLYMORPHISM 1990-10-25 no assertion criteria provided literature only

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