NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer) AND Cornelia de Lange syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001196333.2
Allele description [Variation Report for NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)]
NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024