NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 7, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002321771.5
Allele description [Variation Report for NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)]
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024