NM_000503.6(EYA1):c.1611T>A (p.Cys537Ter) AND Branchiootorenal syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003123356.3
Allele description [Variation Report for NM_000503.6(EYA1):c.1611T>A (p.Cys537Ter)]
NM_000503.6(EYA1):c.1611T>A (p.Cys537Ter)
Condition(s)
Assertion and evidence details
Last Updated: Nov 11, 2023