Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151565 | SCV000199715 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Arg43Lys in exon 5 of TXNDC3: This variant is not expected to have clinical sign ificance because it has been identified in 36.9% (1624/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs2722372). |
Prevention |
RCV000151565 | SCV000312726 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV001421027 | SCV001623501 | benign | Primary ciliary dyskinesia 6 | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001421027 | SCV001717583 | benign | Primary ciliary dyskinesia 6 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001651015 | SCV001866803 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381472 | SCV002694112 | benign | Primary ciliary dyskinesia | 2014-12-10 | 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. |