NM_000090.4(COL3A1):c.1189G>A (p.Glu397Lys) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001805489.2
Allele description [Variation Report for NM_000090.4(COL3A1):c.1189G>A (p.Glu397Lys)]
NM_000090.4(COL3A1):c.1189G>A (p.Glu397Lys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024