NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) AND Bardet-Biedl syndrome 12
- Germline classification:
- Pathogenic (8 submissions)
- Last evaluated:
- Mar 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000001206.16
Allele description [Variation Report for NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)]
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024