Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000120709 | SCV000335126 | benign | not specified | 2015-09-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515840 | SCV001020736 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001709491 | SCV001938756 | benign | not provided | 2019-09-10 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000120709 | SCV000084870 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Genetic Services Laboratory, |
RCV000120709 | SCV003839469 | benign | not specified | 2022-12-05 | no assertion criteria provided | clinical testing |