Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537869 | SCV000632343 | likely benign | Reticular dysgenesis | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000537869 | SCV001529096 | uncertain significance | Reticular dysgenesis | 2018-07-29 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Prevention |
RCV003942766 | SCV004772446 | likely benign | AK2-related condition | 2022-02-09 | 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). |
Diagnostic Laboratory, |
RCV001726221 | SCV001963026 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001726221 | SCV001966644 | uncertain significance | not provided | no assertion criteria provided | clinical testing |