ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4013C>T (p.Ala1338Val) (rs1397249771)

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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 RCV000621772 SCV000739396 uncertain significance Cardiovascular phenotype 2016-02-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Rarity in general population databases (dbsnp, esp, 1000 genomes)

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