NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs) AND Bardet-Biedl syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001383445.3
Allele description [Variation Report for NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)]
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024