Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000375086 | SCV000468063 | uncertain significance | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002523591 | SCV003653298 | uncertain significance | Inborn genetic diseases | 2022-10-03 | criteria provided, single submitter | clinical testing | The c.2156A>G (p.N719S) alteration is located in exon 12 (coding exon 12) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 2156, causing the asparagine (N) at amino acid position 719 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV000375086 | SCV004295854 | likely benign | Primary ciliary dyskinesia | 2024-01-09 | criteria provided, single submitter | clinical testing |