Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000898842 | SCV001043071 | likely benign | Pyruvate dehydrogenase E3 deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001549379 | SCV001769517 | likely benign | not provided | 2018-09-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003950523 | SCV004759652 | likely benign | DLD-related disorder | 2020-10-19 | 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). |
Natera, |
RCV000898842 | SCV001465044 | likely benign | Pyruvate dehydrogenase E3 deficiency | 2020-10-12 | no assertion criteria provided | clinical testing |