ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) (rs769493139)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254268 SCV000319441 uncertain significance Cardiovascular phenotype 2015-02-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Blueprint Genetics RCV000788669 SCV000927860 uncertain significance not provided 2018-08-16 criteria provided, single submitter clinical testing

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