NM_000393.5(COL5A2):c.2118G>A (p.Pro706=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003161848.2
Allele description [Variation Report for NM_000393.5(COL5A2):c.2118G>A (p.Pro706=)]
NM_000393.5(COL5A2):c.2118G>A (p.Pro706=)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024