Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542299 | SCV000655678 | benign | Joubert syndrome 25 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001534443 | SCV001751374 | likely benign | not provided | 2023-02-12 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Prevention |
RCV003915636 | SCV004736246 | benign | CEP104-related condition | 2019-09-17 | 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). |