NM_181486.4(TBX5):c.1234G>A (p.Val412Ile) AND Aortic valve disease 2
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001085662.7
Allele description [Variation Report for NM_181486.4(TBX5):c.1234G>A (p.Val412Ile)]
NM_181486.4(TBX5):c.1234G>A (p.Val412Ile)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024