Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000629451 | SCV000750393 | likely benign | Primary ciliary dyskinesia | 2023-07-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003243222 | SCV003944298 | uncertain significance | Inborn genetic diseases | 2023-03-15 | criteria provided, single submitter | clinical testing | The c.8098A>G (p.T2700A) alteration is located in exon 49 (coding exon 49) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 8098, causing the threonine (T) at amino acid position 2700 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |