ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu) (rs756874994)

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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 RCV000621219 SCV000739433 uncertain significance Cardiovascular phenotype 2016-07-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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