NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003159774.10
Allele description [Variation Report for NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)]
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024