Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145954 | SCV000193096 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000145954 | SCV000307886 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002515961 | SCV000660386 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001594854 | SCV001827982 | benign | not provided | 2018-07-27 | criteria provided, single submitter | clinical testing |