Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000123167 | SCV000166472 | likely benign | Pancreatic adenocarcinoma | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004019707 | SCV003745374 | uncertain significance | not specified | 2022-10-03 | criteria provided, single submitter | clinical testing | The c.191C>G (p.A64G) alteration is located in exon 2 (coding exon 1) of the PALLD gene. This alteration results from a C to G substitution at nucleotide position 191, causing the alanine (A) at amino acid position 64 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003925221 | SCV004743867 | likely benign | PALLD-related disorder | 2020-10-06 | 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). |