Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001329864 | SCV001521413 | pathogenic | Epidermolysis bullosa simplex 7, with nephropathy and deafness | 2020-06-09 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Center for Genomic Medicine, |
RCV001329864 | SCV001746608 | pathogenic | Epidermolysis bullosa simplex 7, with nephropathy and deafness | 2021-01-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002546356 | SCV003009461 | uncertain significance | not provided | 2022-08-09 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1028736). This variant has not been reported in the literature in individuals affected with CD151-related conditions. This variant is present in population databases (rs759213580, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg165*) in the CD151 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CD151 cause disease. |
Clinical Laboratory Sciences Program |
RCV001329864 | SCV004012070 | pathogenic | Epidermolysis bullosa simplex 7, with nephropathy and deafness | 2020-06-09 | no assertion criteria provided | clinical testing |