Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668054 | SCV000792598 | likely benign | Chorea-acanthocytosis | 2017-07-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938020 | SCV004747641 | likely benign | VPS13A-related condition | 2019-07-01 | 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). |