NM_017617.5(NOTCH1):c.6159C>A (p.Asn2053Lys) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002353623.2
Allele description [Variation Report for NM_017617.5(NOTCH1):c.6159C>A (p.Asn2053Lys)]
NM_017617.5(NOTCH1):c.6159C>A (p.Asn2053Lys)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024