Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502341 | SCV000594893 | likely benign | not specified | 2015-11-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000964198 | SCV001111389 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001702790 | SCV001933651 | benign | Intellectual disability, X-linked 104 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902775 | SCV004718578 | benign | FRMPD4-related condition | 2019-08-09 | 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). |