Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000898850 | SCV001043081 | likely benign | Reticular dysgenesis | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000898850 | SCV001529094 | uncertain significance | Reticular dysgenesis | 2018-07-25 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Prevention |
RCV003958102 | SCV004772618 | likely benign | AK2-related condition | 2019-11-16 | 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). |