Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000425697 | SCV000511795 | likely benign | not provided | 2017-01-04 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000425697 | SCV001122854 | benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003972568 | SCV004788391 | benign | ACY1-related condition | 2019-02-25 | 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). |