Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174298 | SCV000225577 | likely benign | not specified | 2015-06-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003525869 | SCV001037255 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001668332 | SCV001885128 | benign | not provided | 2020-02-27 | criteria provided, single submitter | clinical testing |