NM_133433.4(NIPBL):c.2375G>T (p.Arg792Leu) AND Cornelia de Lange syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002534566.10
Allele description [Variation Report for NM_133433.4(NIPBL):c.2375G>T (p.Arg792Leu)]
NM_133433.4(NIPBL):c.2375G>T (p.Arg792Leu)
Condition(s)
Assertion and evidence details
Last Updated: Nov 3, 2024