NM_024649.5(BBS1):c.687G>A (p.Leu229=) AND Bardet-Biedl syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002071482.6
Allele description [Variation Report for NM_024649.5(BBS1):c.687G>A (p.Leu229=)]
NM_024649.5(BBS1):c.687G>A (p.Leu229=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024