NM_017617.5(NOTCH1):c.5191C>A (p.Pro1731Thr) AND Adams-Oliver syndrome 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002601081.2
Allele description [Variation Report for NM_017617.5(NOTCH1):c.5191C>A (p.Pro1731Thr)]
NM_017617.5(NOTCH1):c.5191C>A (p.Pro1731Thr)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024