NM_017617.5(NOTCH1):c.3171+1_5935-1del AND Aortic valve disease 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002071035.1
Allele description [Variation Report for NM_017617.5(NOTCH1):c.3171+1_5935-1del]
NM_017617.5(NOTCH1):c.3171+1_5935-1del
Condition(s)
Assertion and evidence details
Last Updated: Mar 26, 2023