Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222828 | SCV000269043 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Arg292Gly in exon 10 of DTNBP1: This variant is not expected to have clinical si gnificance because it has been identified in 9.1% (400/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs73369534). |
Invitae | RCV000956366 | SCV001103128 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000956366 | SCV001883069 | benign | not provided | 2019-02-04 | criteria provided, single submitter | clinical testing |