Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000797928 | SCV000937515 | benign | Primary ciliary dyskinesia | 2023-08-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002537063 | SCV003605094 | uncertain significance | Inborn genetic diseases | 2022-01-05 | criteria provided, single submitter | clinical testing | The c.12673C>G (p.L4225V) alteration is located in exon 77 (coding exon 77) of the DNAH11 gene. This alteration results from a C to G substitution at nucleotide position 12673, causing the leucine (L) at amino acid position 4225 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |