Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000247872 | SCV000307541 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV003650557 | SCV004086220 | uncertain significance | Primary ciliary dyskinesia | 2023-07-14 | criteria provided, single submitter | clinical testing | The c.5734A>G (p.M1912V) alteration is located in exon 33 (coding exon 33) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 5734, causing the methionine (M) at amino acid position 1912 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV003650557 | SCV004454311 | likely benign | Primary ciliary dyskinesia | 2023-11-30 | criteria provided, single submitter | clinical testing |