Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155487 | SCV000205184 | likely benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Leu2324Val in exon 42 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 0.6% (22/3790) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS). |
Invitae | RCV000629560 | SCV000750508 | likely benign | Primary ciliary dyskinesia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV002227078 | SCV002506112 | likely benign | Primary ciliary dyskinesia 7 | 2023-08-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000629560 | SCV002663947 | benign | Primary ciliary dyskinesia | 2017-04-17 | 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. |
Prevention |
RCV003952785 | SCV004775370 | likely benign | DNAH11-related condition | 2020-07-17 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |