Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000195528 | SCV000254732 | likely benign | Pancreatic adenocarcinoma | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004020468 | SCV003745383 | uncertain significance | not specified | 2021-12-03 | criteria provided, single submitter | clinical testing | The c.313C>T (p.P105S) alteration is located in exon 2 (coding exon 1) of the PALLD gene. This alteration results from a C to T substitution at nucleotide position 313, causing the proline (P) at amino acid position 105 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |