ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) (rs41263773)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243898 SCV000317349 benign Cardiovascular phenotype 2014-09-10 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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769570 SCV000900967 benign Thoracic aortic aneurysm and aortic dissection 2016-04-27 criteria provided, single submitter clinical testing
Color RCV000769570 SCV000902704 benign Thoracic aortic aneurysm and aortic dissection 2018-03-14 criteria provided, single submitter clinical testing
GeneDx RCV000181054 SCV000233330 benign not specified 2016-07-14 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.
Illumina Clinical Services Laboratory,Illumina RCV000205824 SCV000425525 benign Ehlers-Danlos syndrome, type 4 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029620 SCV000052272 likely benign Familial aortopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Invitae RCV000205824 SCV000261740 benign Ehlers-Danlos syndrome, type 4 2017-08-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000181054 SCV000302031 benign not specified criteria provided, single submitter clinical testing

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