NM_033028.5(BBS4):c.863C>T (p.Ala288Val) AND Bardet-Biedl syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002025574.3
Allele description [Variation Report for NM_033028.5(BBS4):c.863C>T (p.Ala288Val)]
NM_033028.5(BBS4):c.863C>T (p.Ala288Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024