Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000615400 | SCV000713814 | likely benign | not specified | 2017-12-15 | criteria provided, single submitter | clinical testing | c.677-8C>T in intron 4 of CCDC40: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 0.12%(4/33486) of Latino chromosomes by the Gen ome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs7629 61824). |
Invitae | RCV002529359 | SCV003283685 | likely benign | Primary ciliary dyskinesia | 2023-10-13 | criteria provided, single submitter | clinical testing |