NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) AND Intellectual disability, autosomal recessive 18
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000987783.1
Allele description [Variation Report for NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)]
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)
Condition(s)
Assertion and evidence details
Last Updated: Oct 28, 2023