ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala) (rs141210030)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252380 SCV000303984 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000620879 SCV000738706 uncertain significance Cardiovascular phenotype 2016-04-08 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000981709 SCV001129697 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing

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