ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser) (rs1325758824)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620130 SCV000739455 uncertain significance Cardiovascular phenotype 2016-12-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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