Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176106 | SCV000227704 | benign | not specified | 2014-05-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000476562 | SCV000558497 | benign | Primary ciliary dyskinesia | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000476562 | SCV002614347 | likely benign | Primary ciliary dyskinesia | 2021-10-04 | 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. |
ARUP Laboratories, |
RCV003640868 | SCV004563998 | likely benign | Primary ciliary dyskinesia 15 | 2023-08-30 | criteria provided, single submitter | clinical testing |