Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214483 | SCV000270850 | likely benign | not specified | 2015-06-03 | criteria provided, single submitter | clinical testing | p.Tyr536Tyr in exon 14 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 2/66574 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs181882513). |
Invitae | RCV000896071 | SCV001040146 | likely benign | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000896071 | SCV002821838 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | SLC26A4: BP4, BP7 |