ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser) (rs750536437)

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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 RCV000242165 SCV000319716 uncertain significance Cardiovascular phenotype 2015-06-09 criteria provided, single submitter clinical testing Insufficient or Conflicting Evidence;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species

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