Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000132652 | SCV001635974 | likely benign | not provided | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935225 | SCV004751569 | likely benign | SLC24A1-related condition | 2019-09-06 | 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). |
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132652 | SCV000172603 | probable-non-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Likely benign. |