Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000121443 | SCV000202904 | likely benign | not specified | 2015-10-30 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000659829 | SCV000781692 | uncertain significance | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000659829 | SCV000782633 | uncertain significance | Kabuki syndrome 1 | 2017-03-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000865112 | SCV001006028 | likely benign | Kabuki syndrome | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705895 | SCV001903135 | benign | not provided | 2019-03-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28440294, 30459467) |
Ambry Genetics | RCV002515877 | SCV003526122 | likely benign | Inborn genetic diseases | 2021-07-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV001705895 | SCV004033204 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | KMT2D: BP4, BS1 |
Prevention |
RCV004542884 | SCV004764373 | likely benign | KMT2D-related disorder | 2022-02-22 | 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). |
ITMI | RCV000121443 | SCV000085637 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Autoinflammatory diseases unit, |
RCV000659829 | SCV001438157 | likely pathogenic | Kabuki syndrome 1 | 2013-10-01 | no assertion criteria provided | clinical testing |