NM_001904.4(CTNNB1):c.923del (p.Asn308fs) AND Severe intellectual disability-progressive spastic diplegia syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003153211.1
Allele description [Variation Report for NM_001904.4(CTNNB1):c.923del (p.Asn308fs)]
NM_001904.4(CTNNB1):c.923del (p.Asn308fs)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023