NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr) AND Bardet-Biedl syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001058377.15
Allele description [Variation Report for NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr)]
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 16, 2024