Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500770 | SCV000596872 | uncertain significance | not specified | 2015-11-16 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726688 | SCV000702105 | uncertain significance | not provided | 2016-09-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726688 | SCV000732066 | likely benign | not provided | 2023-04-17 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Invitae | RCV000726688 | SCV001111775 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000726688 | SCV004143265 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | RTTN: BP4 |
Prevention |
RCV003915392 | SCV004732022 | likely benign | RTTN-related condition | 2019-12-17 | 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). |