Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222510 | SCV000268777 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | -9A>G in exon 4 of ABCA3: This variant is not expected to have clinical signific ance because it has been identified in 3.3% (146/4396) of African American chrom osomes from a broad population by the NHLBI Exome Sequencing Project (http://evs .gs.washington. |
Gene |
RCV001577890 | SCV001805369 | likely benign | not provided | 2020-08-04 | criteria provided, single submitter | clinical testing |