Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001079589 | SCV000291748 | likely benign | Primary ciliary dyskinesia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000767053 | SCV000568811 | uncertain significance | not provided | 2019-10-28 | criteria provided, single submitter | clinical testing | In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 21131972, 22693285) |
Laboratory for Molecular Medicine, |
RCV000481619 | SCV000711977 | likely benign | not specified | 2016-04-14 | criteria provided, single submitter | clinical testing | c.1363-3delC: This variant is not expected to have clinical significance because it has been identified in 0.35% (17/4804) of Latino chromosomes and 0.34% (22/6 500) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs551191744). |
New York Genome Center | RCV001836760 | SCV002097926 | uncertain significance | Primary ciliary dyskinesia 14 | 2021-03-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001079589 | SCV002699645 | likely benign | Primary ciliary dyskinesia | 2017-02-06 | 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 |
RCV003967672 | SCV004779107 | likely benign | CCDC39-related condition | 2023-06-16 | 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). |