Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596209 | SCV000708864 | uncertain significance | not provided | 2017-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532652 | SCV001047269 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000596209 | SCV001826416 | likely benign | not provided | 2020-11-14 | criteria provided, single submitter | clinical testing |