Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000499550 | SCV000593017 | likely benign | not specified | 2016-12-17 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000585763 | SCV000693694 | uncertain significance | Non-syndromic X-linked intellectual disability | 2011-08-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000873975 | SCV001016078 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932804 | SCV004748903 | benign | ACSL4-related condition | 2019-06-11 | 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). |