Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000167087 | SCV000217915 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-06-21 | criteria provided, single submitter | clinical testing | The c.-921G>A variant is located in the 5' untranslated region (5’ UTR) of the PTEN gene. This variant results from a G to A substitution 921 bases upstream from the first translated codon. Another alteration at the same position (designated as c.-920G>T) has been reported in an individual with PTEN hamartoma tumor syndrome (Zhou XP et al. Am. J. Hum. Genet. 2003 Aug;73:404-11). This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800504 | SCV002047266 | uncertain significance | not provided | 2021-02-26 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000583400 | SCV000691988 | uncertain significance | not specified | no assertion criteria provided | clinical testing |