ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1568C>T (p.Ser523Leu) (rs730880212)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538872 SCV000637284 likely benign not provided 2018-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620616 SCV000739630 likely benign Cardiovascular phenotype 2017-09-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Blueprint Genetics RCV000157499 SCV000207244 uncertain significance Arterial dissection 2014-10-06 no assertion criteria provided clinical testing

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