NM_133433.4(NIPBL):c.3818T>G (p.Ile1273Ser) AND Cornelia de Lange syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 8, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000146588.1
Assertion and evidence details
Last Updated: Oct 8, 2021