Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036514 | SCV000060169 | likely benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | Asn322Asp in Exon 08 of SLC26A4: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (18/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs143002265). |
Counsyl | RCV000674464 | SCV000799804 | uncertain significance | Pendred syndrome | 2018-05-07 | criteria provided, single submitter | clinical testing |