Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003389641 | SCV000307483 | uncertain significance | DNAH11-related condition | 2022-12-22 | criteria provided, single submitter | clinical testing | The DNAH11 c.2783A>T variant is predicted to result in the amino acid substitution p.Asp928Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.16% of alleles in individuals of European (Non-Finnish) descent including 1 homozygous individual in gnomAD (http://gnomad.broadinstitute.org/variant/7-21639520-A-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Invitae | RCV000459210 | SCV000551712 | likely benign | Primary ciliary dyskinesia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
UNC Molecular Genetics Laboratory, |
RCV000459210 | SCV001431748 | uncertain significance | Primary ciliary dyskinesia | 2018-09-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001567623 | SCV001791343 | uncertain significance | not provided | 2020-03-12 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |