Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150493 | SCV000197679 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Glu126Glu in exon 5 of DNAI1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 4.0% (175/4406) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs3818577). |
Prevention |
RCV000150493 | SCV000311864 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000390341 | SCV000479742 | likely benign | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000390341 | SCV000563056 | benign | Primary ciliary dyskinesia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000665896 | SCV000790093 | benign | Kartagener syndrome | 2017-03-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705996 | SCV001911211 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000390341 | SCV002620474 | benign | Primary ciliary dyskinesia | 2014-06-19 | 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. |
Natera, |
RCV000390341 | SCV001458182 | benign | Primary ciliary dyskinesia | 2020-09-16 | no assertion criteria provided | clinical testing |