Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214755 | SCV000270853 | likely benign | not specified | 2016-02-09 | criteria provided, single submitter | clinical testing | p.Gly316Gly in exon 8 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. |
Invitae | RCV001499451 | SCV001704215 | likely benign | not provided | 2022-12-07 | criteria provided, single submitter | clinical testing |