Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001439425 | SCV001642310 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-02-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165462 | SCV003883937 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-02-15 | criteria provided, single submitter | clinical testing | The c.1632C>T variant (also known as p.D544D), located in coding exon 11 of the PMS2 gene, results from a C to T substitution at nucleotide position 1632. This nucleotide substitution does not change the at codon 544. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |