NM_133433.4(NIPBL):c.1513dup (p.Arg505fs) AND Cornelia de Lange syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001975107.6
Allele description [Variation Report for NM_133433.4(NIPBL):c.1513dup (p.Arg505fs)]
NM_133433.4(NIPBL):c.1513dup (p.Arg505fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024