NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 11, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002440499.9
Allele description [Variation Report for NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val)]
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val)
Condition(s)
Assertion and evidence details
Last Updated: Oct 26, 2024