Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151897 | SCV000200403 | likely benign | not specified | 2014-03-19 | criteria provided, single submitter | clinical testing | c.1342-10C>T variant in intron 11 of SLC26A4: This variant is not expected to ha ve clinical significance because it does not diverge from the splice site consen sus sequence and computational tools do not predict an impact to splicing. |
Invitae | RCV002516053 | SCV003290101 | likely benign | not provided | 2023-06-28 | criteria provided, single submitter | clinical testing |