Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079669 | SCV000111552 | benign | not specified | 2014-01-02 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000079669 | SCV000193090 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000079669 | SCV000307880 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001664276 | SCV001718727 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001664277 | SCV001876040 | benign | Menke-Hennekam syndrome 2 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001664276 | SCV001876041 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001675606 | SCV001892321 | benign | not provided | 2018-07-03 | criteria provided, single submitter | clinical testing |