Showing 1 to 6 of 6 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) | Likely Pathogenic | Pendred syndrome | 2023-10-05 | 2.1 | ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A Version 2 | SLC26A4 |
| View | NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) | Likely Pathogenic | Pendred syndrome | 2023-09-18 | 2.0 | - | SLC26A4 |
| View | NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) | Uncertain Significance | Pendred syndrome | 2023-09-18 | 1.3 | - | SLC26A4 |
| View | NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) | Uncertain Significance | Pendred syndrome | 2022-09-20 | 1.2 | - | SLC26A4 |
| View | NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) | Uncertain Significance | Pendred syndrome | 2022-09-20 | 1.1 | - | SLC26A4 |
| View | NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) | Uncertain Significance | Pendred syndrome | 2019-11-26 | 1.0 | - | SLC26A4 |
Showing 1 to 6 of 6 rows