Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001264105 | SCV001442205 | likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz | 2019-06-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003574868 | SCV004366851 | pathogenic | not provided | 2023-12-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln476*) in the LAMB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMB3 are known to be pathogenic (PMID: 11023379, 16473856). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LAMB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 984099). For these reasons, this variant has been classified as Pathogenic. |