Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862311 | SCV001002799 | benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001548347 | SCV001768242 | likely benign | not provided | 2019-11-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908175 | SCV004719356 | benign | TCTN2-related condition | 2020-02-10 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |