Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000869069 | SCV001010465 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908252 | SCV004723350 | likely benign | VPS13A-related disorder | 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, |
RCV001274087 | SCV001457831 | uncertain significance | Chorea-acanthocytosis | 2020-02-13 | no assertion criteria provided | clinical testing |