Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000712036 | SCV000517160 | benign | not provided | 2021-04-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000466219 | SCV000559735 | likely benign | Koolen-de Vries syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712036 | SCV000842450 | benign | not provided | 2017-12-06 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000466219 | SCV000898764 | uncertain significance | Koolen-de Vries syndrome | 2021-03-30 | criteria provided, single submitter | clinical testing | KANSL1 NM_001193466.1 exon 5 p.Thr551Ile (c.1652C>T): This variant has not been reported in the literature but is present in 0.1% (43/34332) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs778178483). This variant is present in ClinVar (Variation ID:379763). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |