Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000438080 | SCV000510863 | likely benign | not provided | 2016-11-22 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000474219 | SCV000559733 | benign | Koolen-de Vries syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000474219 | SCV000898763 | uncertain significance | Koolen-de Vries syndrome | 2021-03-30 | criteria provided, single submitter | clinical testing | KANSL1 NM_001193466 exon 6 p.Ser609Asn (c.1826G>A): This variant has not been reported in the literature but is present in 0.4% (115/24030) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs138698439). This variant is present in ClinVar (Variation ID:376914). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Athena Diagnostics Inc | RCV000438080 | SCV001144289 | benign | not provided | 2019-05-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000438080 | SCV001861340 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30924900) |
Ce |
RCV000438080 | SCV004140740 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | KANSL1: BS1 |