Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697448 | SCV000716785 | likely benign | not provided | 2020-11-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001021620 | SCV001183258 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-21 | criteria provided, single submitter | clinical testing | The c.-3A>G variant is located in the 5' untranslated region (5’ UTR) of the FH gene. This variant results from an A to G substitution 3 bases upstream from the first translated codon. This nucleotide position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Center for Genomic Medicine, |
RCV003320713 | SCV004025219 | uncertain significance | not specified | 2024-07-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004555588 | SCV004741733 | likely benign | FH-related disorder | 2024-01-09 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |