NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=) AND Intellectual disability, autosomal dominant 16
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001808625.3
Allele description [Variation Report for NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=)]
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=)
Condition(s)
Assertion and evidence details
Last Updated: May 19, 2024