Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000629597 | SCV000750551 | benign | Primary ciliary dyskinesia | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000629597 | SCV003995359 | likely benign | Primary ciliary dyskinesia | 2023-06-12 | 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. |
Prevention |
RCV003935745 | SCV004749478 | benign | CCDC40-related condition | 2019-07-15 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |