Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000723119 | SCV004370761 | pathogenic | not provided | 2023-07-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FREM2-related conditions. This variant is present in population databases (rs768342700, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Glu2335Profs*6) in the FREM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FREM2 are known to be pathogenic (PMID: 18203166, 26552811). |
Gharavi Laboratory, |
RCV000723119 | SCV000854250 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |