Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868586 | SCV001009933 | likely benign | Pancreatic adenocarcinoma | 2023-09-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004027730 | SCV003737654 | uncertain significance | not specified | 2021-09-10 | criteria provided, single submitter | clinical testing | The c.133C>A (p.P45T) alteration is located in exon 2 (coding exon 1) of the PALLD gene. This alteration results from a C to A substitution at nucleotide position 133, causing the proline (P) at amino acid position 45 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |