NM_133433.4(NIPBL):c.2432C>A (p.Ser811Tyr) AND Cornelia de Lange syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003604258.2
Allele description [Variation Report for NM_133433.4(NIPBL):c.2432C>A (p.Ser811Tyr)]
NM_133433.4(NIPBL):c.2432C>A (p.Ser811Tyr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024