NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) AND Bardet-Biedl syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jan 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000589350.9
Allele description [Variation Report for NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)]
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024