ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) (rs370774253)

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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 RCV000618338 SCV000738736 likely benign Cardiovascular phenotype 2017-09-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000441829 SCV000520587 likely benign not specified 2017-08-18 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 RCV000269622 SCV000425639 uncertain significance Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000554371 SCV000631583 likely benign Ehlers-Danlos syndrome, classic type 2017-05-16 criteria provided, single submitter clinical testing

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