Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723520 | SCV000112054 | uncertain significance | not provided | 2015-01-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000723520 | SCV000728617 | benign | not provided | 2020-04-24 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29778030, 21607748, 26092435, 23320472, 30459467, 30107592) |
Center for Human Genetics, |
RCV000521303 | SCV000781544 | uncertain significance | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000339875 | SCV001021765 | likely benign | Kabuki syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000723520 | SCV004130827 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | KMT2D: BS1 |
Prevention |
RCV004542764 | SCV004770133 | likely benign | KMT2D-related disorder | 2022-08-17 | 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). |
Genetic and Metabolic Disease Program, |
RCV000521303 | SCV000538189 | likely pathogenic | Kabuki syndrome 1 | 2017-02-01 | no assertion criteria provided | clinical testing | This variant is identified in a male proband presenting with clinical features of Kabuki syndrome. This variant is maternally inherited. The mother shares some clinical features with the son and she has recently been diagnosed with chronic myelogenous leukemia (CML). |