Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000233416 | SCV000287018 | benign | Primary ciliary dyskinesia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000249913 | SCV000307553 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000249913 | SCV000517087 | likely benign | not specified | 2015-05-29 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Center for Pediatric Genomic Medicine, |
RCV000514267 | SCV000610033 | likely benign | not provided | 2017-04-27 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000249913 | SCV000966295 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Arg2139Lys in exon 38 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (46/4016) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs140048925). |