Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000866147 | SCV001007207 | likely benign | not provided | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908220 | SCV004721047 | likely benign | VPS13A-related disorder | 2019-07-30 | 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, |
RCV001276362 | SCV001462574 | likely benign | Chorea-acanthocytosis | 2020-09-16 | no assertion criteria provided | clinical testing |