Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000576306 | SCV000678229 | uncertain significance | Aortic valve disorder; Adams-Oliver syndrome 5 | 2017-08-01 | criteria provided, single submitter | clinical testing | NOTCH1 NM_017617.4 exon34 p.His2500Asp (c.7498C>G): This variant has not been reported in the literature but is present in 9/121248 European chromosomes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs763902589). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |