Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000343290 | SCV000480800 | uncertain significance | Chorea-acanthocytosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001416506 | SCV001618688 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001416506 | SCV001747595 | uncertain significance | not provided | 2021-05-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957876 | SCV004770606 | likely benign | VPS13A-related condition | 2022-05-06 | 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). |
Natera, |
RCV000343290 | SCV002078275 | likely benign | Chorea-acanthocytosis | 2019-11-11 | no assertion criteria provided | clinical testing |