Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664862 | SCV000788883 | likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz | 2017-01-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001868196 | SCV002233335 | pathogenic | not provided | 2022-11-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550189). This variant has not been reported in the literature in individuals affected with LAMB3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro103Leufs*18) 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). |