Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825824 | SCV000967295 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Lys580Lys in exon 16 of SLC26A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.11% (13/11524 ) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs573894071). |
Gene |
RCV001563356 | SCV001786283 | likely benign | not provided | 2020-12-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21704276) |
Invitae | RCV001563356 | SCV002331293 | benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001830841 | SCV002080009 | likely benign | Pendred syndrome | 2020-03-18 | no assertion criteria provided | clinical testing |