NM_133433.4(NIPBL):c.894A>G (p.Gln298=) AND Cornelia de Lange syndrome 1
- Germline classification:
- Uncertain significance (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:
- RCV000146750.6
Allele description [Variation Report for NM_133433.4(NIPBL):c.894A>G (p.Gln298=)]
NM_133433.4(NIPBL):c.894A>G (p.Gln298=)
Condition(s)
Assertion and evidence details
Last Updated: May 19, 2024