Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001089448 | SCV000655153 | likely benign | Tumor predisposition syndrome 3 | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000830865 | SCV000972603 | likely benign | not provided | 2021-10-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002404555 | SCV002708789 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-24 | criteria provided, single submitter | clinical testing | The c.1569G>A variant (also known as p.S523S), located in coding exon 12 of the POT1 gene. This variant results from a G to A substitution at nucleotide position 1569. This nucleotide substitution does not change the serine at codon 523. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive and direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |