Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221887 | SCV000270139 | benign | not specified | 2018-05-10 | criteria provided, single submitter | clinical testing | The p.Lys3734Gln in exon 68 of DNAH11 is classified as benign because it has bee n identified in 2.5% (607/23998) of African chromosomes, including 4 homozygotes , by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs114257197). ACMG/AMP Criteria applied: BA1. |
Prevention |
RCV000221887 | SCV000307426 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000462181 | SCV000561990 | benign | Primary ciliary dyskinesia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001731440 | SCV001982317 | likely benign | not provided | 2021-09-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000462181 | SCV002746862 | benign | Primary ciliary dyskinesia | 2015-08-19 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |