Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216851 | SCV000270046 | likely benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | Thr2092Ile in Exon 48 of CDH23: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (10/3322) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs145868749). |
Invitae | RCV000900248 | SCV001044553 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000900248 | SCV001796657 | likely benign | not provided | 2020-07-31 | criteria provided, single submitter | clinical testing |