Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000870169 | SCV001011650 | likely benign | Pancreatic adenocarcinoma | 2023-10-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004027771 | SCV003944223 | uncertain significance | not specified | 2023-03-22 | criteria provided, single submitter | clinical testing | The c.214C>T (p.P72S) 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 214, causing the proline (P) at amino acid position 72 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003975420 | SCV004790162 | likely benign | PALLD-related disorder | 2023-07-19 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |