NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln) AND Cornelia de Lange syndrome 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jul 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001810312.3
Allele description [Variation Report for NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln)]
NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln)
Condition(s)
Assertion and evidence details
Last Updated: Aug 11, 2024