Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079678 | SCV000111561 | benign | not specified | 2014-06-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000079678 | SCV000307888 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV001664283 | SCV001876047 | benign | Menke-Hennekam syndrome 2 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001664282 | SCV001876048 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001664282 | SCV002408764 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-02-01 | criteria provided, single submitter | clinical testing |