Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221931 | SCV000268851 | benign | not specified | 2016-03-16 | criteria provided, single submitter | clinical testing | p.Ser17Ser in exon 2 of CCDC40: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.4% (33/8674) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs141650385). |
Invitae | RCV000863349 | SCV001003996 | benign | Primary ciliary dyskinesia | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000863349 | SCV002641967 | benign | Primary ciliary dyskinesia | 2018-03-09 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |