Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522651 | SCV000621668 | likely pathogenic | not provided | 2017-10-19 | criteria provided, single submitter | clinical testing | The c.3459_3461delCTT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.3459_3461delCTT variant results in an in-frame deletion of a single Phenylalanine residue, denoted p.Phe1154del. Other in-frame deletions or missense variants have not been reported at nearby residues in the Human Gene Mutation Database (Stenson et al., 2014). |
Hudson |
RCV000576662 | SCV000677108 | likely pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis | 2017-11-09 | criteria provided, single submitter | research |