NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs) AND intellectual disability with severe speech impairment
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 13, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000190454.1
Allele description [Variation Report for NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs)]
NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs)
Condition(s)
- Name:
- intellectual disability with severe speech impairment
- Identifiers:
- MedGen: CN232368
Assertion and evidence details
Last Updated: Aug 5, 2023