NM_002576.5(PAK1):c.428T>C (p.Met143Thr) AND Intellectual developmental disorder with macrocephaly, seizures, and speech delay
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002491872.1
Allele description [Variation Report for NM_002576.5(PAK1):c.428T>C (p.Met143Thr)]
NM_002576.5(PAK1):c.428T>C (p.Met143Thr)
Condition(s)
Assertion and evidence details
Last Updated: Feb 7, 2023