Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150451 | SCV000197637 | uncertain significance | not specified | 2013-09-27 | criteria provided, single submitter | clinical testing | The Glu3481Lys variant in DNAH11 has not been previously reported in individuals with lung disease or in large population studies. Computational analyses (bioch emical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do n ot provide strong support for or against an impact to the protein. In summary, a dditional studies are needed to fully assess the clinical significance of the Gl u3481Lys variant. |
Invitae | RCV000705884 | SCV000834901 | likely benign | Primary ciliary dyskinesia | 2024-01-04 | criteria provided, single submitter | clinical testing | |
3billion | RCV002051817 | SCV002318706 | uncertain significance | Primary ciliary dyskinesia 7 | 2022-03-22 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000362). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |