Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001346444 | SCV001540648 | likely benign | Primary ciliary dyskinesia | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001655716 | SCV001871275 | uncertain significance | not provided | 2021-08-24 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533) |
Prevention |
RCV003426054 | SCV004117329 | uncertain significance | DNAH11-related condition | 2023-02-06 | criteria provided, single submitter | clinical testing | The DNAH11 c.3139G>A variant is predicted to result in the amino acid substitution p.Glu1047Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.099% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-21640432-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |