Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001353368 | SCV001548526 | uncertain significance | Aortic valve disease 1 | 2021-02-27 | criteria provided, single submitter | clinical testing | This NOTCH1 variant (rs35652719) is rare (<0.1%) in a large population dataset (gnomAD: 5/278682 total alleles, 0.002%, no homozygotes) and has not been reported previously in ClinVar nor the literature to our knowledge. Of three bioinformatics tools queried, two predict that p.Leu1848Met would be damaging, while another predicts that this substitution would be tolerated. The leucine residue at this position is strongly conserved across all vertebrate species assessed. This variant is not predicted to affect normal exon 30 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence, we consider the clinical significance of c.5542C>A to be uncertain at this time. |
Labcorp Genetics |
RCV001366341 | SCV001562642 | benign | Adams-Oliver syndrome 5 | 2022-08-16 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001366341 | SCV002553338 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001353368 | SCV002553339 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |