Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001263472 | SCV001441550 | pathogenic | Fraser syndrome 2 | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Genomic Medicine Lab, |
RCV001263472 | SCV001573078 | pathogenic | Fraser syndrome 2 | 2020-09-10 | criteria provided, single submitter | clinical testing | |
Genomic Medicine Lab, |
RCV001263472 | SCV002576352 | pathogenic | Fraser syndrome 2 | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV002486009 | SCV002776409 | likely pathogenic | Isolated cryptophthalmia; Fraser syndrome 2 | 2021-10-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003698855 | SCV004458905 | pathogenic | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe1722Valfs*5) 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). This variant is present in population databases (rs769926034, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with FREM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 983512). For these reasons, this variant has been classified as Pathogenic. |