Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001205520 | SCV001376782 | pathogenic | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu8*) in the LIFR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LIFR are known to be pathogenic (PMID: 14740318). This variant is present in population databases (rs773896661, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with LIFR-related conditions. ClinVar contains an entry for this variant (Variation ID: 936674). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV003145375 | SCV003831387 | likely pathogenic | Stüve-Wiedemann syndrome 1 | 2021-12-22 | criteria provided, single submitter | clinical testing |