Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000120725 | SCV000859177 | likely benign | not specified | 2018-01-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515849 | SCV001096913 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001640106 | SCV001860666 | benign | not provided | 2020-02-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24728327) |
Ce |
RCV001640106 | SCV004153128 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | EP300: BS1 |
ITMI | RCV000120725 | SCV000084888 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |