Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000186672 | SCV000230832 | likely benign | not specified | 2016-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000230022 | SCV000240238 | benign | not provided | 2021-03-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080646 | SCV000282687 | benign | Adenylosuccinate lyase deficiency | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000230022 | SCV001142963 | benign | not provided | 2018-12-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907621 | SCV004719771 | likely benign | ADSL-related disorder | 2020-09-08 | 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). |