NM_133433.4(NIPBL):c.6911T>G (p.Val2304Gly) AND Cornelia de Lange syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 20, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001369564.6
Allele description [Variation Report for NM_133433.4(NIPBL):c.6911T>G (p.Val2304Gly)]
NM_133433.4(NIPBL):c.6911T>G (p.Val2304Gly)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024