ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.114C>G (p.Ser38=) (rs141241764)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621286 SCV000738506 likely benign Cardiovascular phenotype 2017-07-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Center for Human Genetics, Inc RCV000659409 SCV000781220 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000777600 SCV000913466 likely benign Thoracic aortic aneurysm and aortic dissection 2018-05-11 criteria provided, single submitter clinical testing
GeneDx RCV000181045 SCV000233320 benign not specified 2014-11-05 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.
Invitae RCV000463884 SCV000554692 likely benign Ehlers-Danlos syndrome, type 4 2018-01-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000181045 SCV000302015 likely benign not specified criteria provided, single submitter clinical testing

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