NM_005257.6(GATA6):c.134C>T (p.Ser45Phe) AND Atrioventricular septal defect 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003643581.1
Allele description [Variation Report for NM_005257.6(GATA6):c.134C>T (p.Ser45Phe)]
NM_005257.6(GATA6):c.134C>T (p.Ser45Phe)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024