NM_000090.4(COL3A1):c.2867G>A (p.Arg956Gln) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003528767.1
Allele description [Variation Report for NM_000090.4(COL3A1):c.2867G>A (p.Arg956Gln)]
NM_000090.4(COL3A1):c.2867G>A (p.Arg956Gln)
Condition(s)
Assertion and evidence details
Last Updated: Jun 2, 2024