NM_152384.3(BBS5):c.209-1G>A AND Bardet-Biedl syndrome 5
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002249291.1
Allele description [Variation Report for NM_152384.3(BBS5):c.209-1G>A]
NM_152384.3(BBS5):c.209-1G>A
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023