NM_198428.3(BBS9):c.27G>A (p.Trp9Ter) AND Bardet-Biedl syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003634396.1
Assertion and evidence details
Last Updated: Feb 28, 2024