Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151899 | SCV000200406 | likely benign | not specified | 2018-08-02 | criteria provided, single submitter | clinical testing | The p.Ile490Ile variant in SLC26A4 is classified as likely benign since it is no t expected to have clinical significance because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and it has bee n identified in 0.29% (101/34404) of Latino chromosomes by the Genome Aggregatio n Database (gnomAD, http://gnomad.broadinstitute.org). |
Invitae | RCV000948786 | SCV001095009 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000948786 | SCV001764477 | likely benign | not provided | 2021-05-12 | criteria provided, single submitter | clinical testing |