Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000367714 | SCV000340441 | uncertain significance | not provided | 2018-05-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000367714 | SCV001065330 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920113 | SCV004728660 | likely benign | TRMU-related condition | 2022-02-13 | 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, |
RCV001277297 | SCV001464238 | likely benign | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2020-06-05 | no assertion criteria provided | clinical testing |