Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180683 | SCV000233162 | uncertain significance | not provided | 2015-02-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079629 | SCV000559753 | likely benign | Primary ciliary dyskinesia | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001079629 | SCV002646109 | likely benign | Primary ciliary dyskinesia | 2015-01-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Natera, |
RCV001079629 | SCV001455208 | uncertain significance | Primary ciliary dyskinesia | 2020-01-17 | no assertion criteria provided | clinical testing |