NM_005120.3(MED12):c.2928T>C (p.Tyr976=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004519302.1
Allele description [Variation Report for NM_005120.3(MED12):c.2928T>C (p.Tyr976=)]
NM_005120.3(MED12):c.2928T>C (p.Tyr976=)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024