Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151911 | SCV000200422 | likely benign | not specified | 2013-09-08 | criteria provided, single submitter | clinical testing | 2320-4A>C in Intron 20 of SLC26A4: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and computational splice tools do not predict altered splicing. |
Counsyl | RCV000671770 | SCV000796789 | uncertain significance | Pendred syndrome | 2017-12-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002516054 | SCV003478901 | likely benign | not provided | 2023-11-15 | criteria provided, single submitter | clinical testing |