ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) (rs142544320)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621030 SCV000738712 likely benign Cardiovascular phenotype 2016-08-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000124517 SCV000167950 benign not specified 2014-04-23 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 RCV000394301 SCV000425610 uncertain significance Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227505 SCV000284821 likely benign Ehlers-Danlos syndrome, classic type 2017-11-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124517 SCV000304010 likely benign not specified criteria provided, single submitter clinical testing

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