ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3556G>C (p.Glu1186Gln)

dbSNP: rs1013688544
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224714 SCV003920300 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 criteria provided, single submitter clinical testing This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain

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