NM_017617.5(NOTCH1):c.6423G>T (p.Ser2141=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002361688.2
Allele description [Variation Report for NM_017617.5(NOTCH1):c.6423G>T (p.Ser2141=)]
NM_017617.5(NOTCH1):c.6423G>T (p.Ser2141=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024