Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634873 | SCV000756229 | likely benign | Propionic acidemia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000634873 | SCV001367158 | uncertain significance | Propionic acidemia | 2018-10-12 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP4,BP6. |
Gene |
RCV001637106 | SCV001849450 | benign | not provided | 2019-10-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001637106 | SCV001962528 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | PCCB: PP3, BS2 |
Prevention |
RCV003928063 | SCV004749306 | likely benign | PCCB-related condition | 2019-06-17 | 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). |
Natera, |
RCV000634873 | SCV002081480 | benign | Propionic acidemia | 2019-12-19 | no assertion criteria provided | clinical testing |