ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=) (rs142895373)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251112 SCV000319881 likely benign Cardiovascular phenotype 2015-06-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000230348 SCV000284822 likely benign Ehlers-Danlos syndrome, classic type 2015-12-02 criteria provided, single submitter clinical testing

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