NM_133433.4(NIPBL):c.300G>A (p.Leu100=) AND Cornelia de Lange syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002164117.6
Allele description [Variation Report for NM_133433.4(NIPBL):c.300G>A (p.Leu100=)]
NM_133433.4(NIPBL):c.300G>A (p.Leu100=)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024