NM_000093.5(COL5A1):c.1530T>C (p.Asp510=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 13, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004520455.1
Allele description [Variation Report for NM_000093.5(COL5A1):c.1530T>C (p.Asp510=)]
NM_000093.5(COL5A1):c.1530T>C (p.Asp510=)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024