NM_133433.4(NIPBL):c.1469G>A (p.Arg490His) AND Cornelia de Lange syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002289229.2
Allele description [Variation Report for NM_133433.4(NIPBL):c.1469G>A (p.Arg490His)]
NM_133433.4(NIPBL):c.1469G>A (p.Arg490His)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024