Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659768 | SCV000781619 | uncertain significance | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001481332 | SCV001685674 | likely benign | Kabuki syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002225706 | SCV002504494 | likely benign | not provided | 2019-04-02 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Prevention |
RCV004533447 | SCV004121018 | uncertain significance | KMT2D-related disorder | 2022-10-18 | criteria provided, single submitter | clinical testing | The KMT2D c.8579G>A variant is predicted to result in the amino acid substitution p.Arg2860His. This variant was reported in an individual with heterotaxy syndrome; however, no additional evidence was provided to support causation, and this gene-disease association is provisional (Liang et al 2020. PubMed ID: 32738303). This variant is reported in 0.023% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-49432560-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |