NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter) AND Cornelia de Lange syndrome 1
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Feb 8, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000002232.3
Assertion and evidence details
Last Updated: Aug 13, 2020