ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.2700C>T (p.Gly900=) (rs112164939)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620898 SCV000738517 likely benign Cardiovascular phenotype 2016-11-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000777802 SCV000913794 likely benign Thoracic aortic aneurysm and aortic dissection 2018-07-02 criteria provided, single submitter clinical testing
GeneDx RCV000181059 SCV000233335 likely benign not specified 2017-12-15 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 RCV000457557 SCV000554711 likely benign Ehlers-Danlos syndrome, type 4 2017-12-29 criteria provided, single submitter clinical testing

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