Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001220730 | SCV001392739 | likely benign | Primary ciliary dyskinesia | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002562511 | SCV003716467 | uncertain significance | Inborn genetic diseases | 2021-09-17 | criteria provided, single submitter | clinical testing | The c.11650C>G (p.L3884V) alteration is located in exon 71 (coding exon 71) of the DNAH11 gene. This alteration results from a C to G substitution at nucleotide position 11650, causing the leucine (L) at amino acid position 3884 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |