NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) AND Cornelia de Lange syndrome 1
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Sep 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000260735.14
Allele description [Variation Report for NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)]
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024