Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UNC Molecular Genetics Laboratory, |
RCV001255256 | SCV001431615 | uncertain significance | Primary ciliary dyskinesia | 2020-03-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003166581 | SCV003884438 | uncertain significance | Inborn genetic diseases | 2023-01-23 | criteria provided, single submitter | clinical testing | The c.12796T>A (p.F4266I) alteration is located in exon 78 (coding exon 78) of the DNAH11 gene. This alteration results from a T to A substitution at nucleotide position 12796, causing the phenylalanine (F) at amino acid position 4266 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV001255256 | SCV004675837 | benign | Primary ciliary dyskinesia | 2024-01-11 | criteria provided, single submitter | clinical testing |