NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 21, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001798837.2
Allele description [Variation Report for NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly)]
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024