Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592925 | SCV000706008 | uncertain significance | not provided | 2017-01-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532507 | SCV002998357 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-12-09 | criteria provided, single submitter | clinical testing |