Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177546 | SCV000229431 | uncertain significance | not provided | 2015-03-09 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000659750 | SCV000781599 | uncertain significance | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000358195 | SCV001018713 | likely benign | Kabuki syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000177546 | SCV001867072 | benign | not provided | 2019-04-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31624253) |
Prevention |
RCV004539652 | SCV004767739 | likely benign | KMT2D-related disorder | 2022-04-26 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |