NM_000754.4(COMT):c.575_576insT (p.Trp193fs) AND Bardet-Biedl syndrome
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003224777.2
Allele description [Variation Report for NM_000754.4(COMT):c.575_576insT (p.Trp193fs)]
NM_000754.4(COMT):c.575_576insT (p.Trp193fs)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024