Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003534993 | SCV003906107 | uncertain significance | Primary ciliary dyskinesia | 2023-02-27 | criteria provided, single submitter | clinical testing | The c.2732A>G (p.N911S) alteration is located in exon 18 (coding exon 18) of the DNAH5 gene. This alteration results from a A to G substitution at nucleotide position 2732, causing the asparagine (N) at amino acid position 911 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV003534993 | SCV004299816 | likely benign | Primary ciliary dyskinesia | 2023-08-16 | criteria provided, single submitter | clinical testing |