Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000629616 | SCV000750570 | likely benign | Primary ciliary dyskinesia | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000629616 | SCV002667710 | uncertain significance | Primary ciliary dyskinesia | 2021-12-20 | criteria provided, single submitter | clinical testing | The c.660C>T variant (also known as p.F220F), located in coding exon 4 of the CCDC40 gene. This variant results from a C to T substitution at nucleotide position 660. This nucleotide substitution does not change the phenylalanine at codon 220. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |