Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000346438 | SCV000380161 | likely benign | Glucocorticoid deficiency with achalasia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000972502 | SCV001120215 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977906 | SCV004795356 | benign | AAAS-related condition | 2019-02-21 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |