The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA253316 4842
VCEP: Hearing Loss VCEP
Showing 1 to 9 of 9 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) | Likely Pathogenic | Pendred syndrome | 2023-02-06 | 2.6 | - | SLC26A4 |
| View | NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) | Likely Pathogenic | Pendred syndrome | 2023-02-06 | 2.5 | - | SLC26A4 |
| View | NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) | Likely Pathogenic | Pendred syndrome | 2023-02-06 | 2.4 | - | SLC26A4 |
| View | NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) | Likely Pathogenic | Pendred syndrome | 2023-02-06 | 2.3 | - | SLC26A4 |
| View | NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) | Likely Pathogenic | Pendred syndrome | 2021-03-30 | 2.2 | - | SLC26A4 |
| View | NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) | Likely Pathogenic | Pendred syndrome | 2021-03-30 | 2.1 | - | SLC26A4 |
| View | NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) | Likely Pathogenic | Pendred syndrome | 2021-03-30 | 2.0 | - | SLC26A4 |
| View | NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) | Uncertain Significance | Pendred syndrome | 2021-02-11 | 1.1 | - | SLC26A4 |
| View | NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) | Uncertain Significance | Pendred syndrome | 2020-08-26 | 1.0 | - | SLC26A4 |
Showing 1 to 9 of 9 rows