NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) AND Bardet-Biedl syndrome 12
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000669174.3
Allele description [Variation Report for NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)]
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024