Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000606090 | SCV000725787 | likely benign | not specified | 2017-12-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000644666 | SCV000766369 | benign | Koolen-de Vries syndrome | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000644666 | SCV003813918 | uncertain significance | Koolen-de Vries syndrome | 2019-12-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003403424 | SCV004104871 | uncertain significance | KANSL1-related disorder | 2023-08-03 | criteria provided, single submitter | clinical testing | The KANSL1 c.2194A>G variant is predicted to result in the amino acid substitution p.Thr732Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-44117077-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |