ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) (rs184402915)

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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 RCV000252199 SCV000317388 likely benign Cardiovascular phenotype 2017-10-23 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
Color RCV000771833 SCV000904546 benign Thoracic aortic aneurysm and aortic dissection 2018-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000124415 SCV000167848 benign not specified 2014-05-03 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 RCV000378531 SCV000425541 likely benign Ehlers-Danlos syndrome, type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000378531 SCV000554701 benign Ehlers-Danlos syndrome, type 4 2017-11-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124415 SCV000302046 likely benign not specified criteria provided, single submitter clinical testing

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