NM_181486.4(TBX5):c.492C>G (p.His164Gln) AND Aortic valve disease 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003648846.1
Allele description [Variation Report for NM_181486.4(TBX5):c.492C>G (p.His164Gln)]
NM_181486.4(TBX5):c.492C>G (p.His164Gln)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024