NM_006420.3(ARFGEF2):c.2286_2288del (p.Phe763del) AND Periventricular laminar heterotopia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000387411.5
Allele description [Variation Report for NM_006420.3(ARFGEF2):c.2286_2288del (p.Phe763del)]
NM_006420.3(ARFGEF2):c.2286_2288del (p.Phe763del)
Condition(s)
- Name:
- Periventricular laminar heterotopia
- Identifiers:
- MedGen: C2678104; Human Phenotype Ontology: HP:0032389
Assertion and evidence details
Last Updated: Apr 15, 2023