NM_138959.3(VANGL1):c.*301G>C AND Neural tube defect
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000403404.5
Allele description [Variation Report for NM_138959.3(VANGL1):c.*301G>C]
NM_138959.3(VANGL1):c.*301G>C
Condition(s)
- Name:
- Neural tube defect (NTD)
- Synonyms:
- Neural tube defects
- Identifiers:
- MONDO: MONDO:0018075; MedGen: C0027794; Orphanet: 823; OMIM: 182940; Human Phenotype Ontology: HP:0045005
Assertion and evidence details
Last Updated: Dec 24, 2023