NM_000141.5(FGFR2):c.*497T>C AND Craniosynostosis syndrome
- 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:
- RCV000370031.6
Allele description [Variation Report for NM_000141.5(FGFR2):c.*497T>C]
NM_000141.5(FGFR2):c.*497T>C
Condition(s)
- Name:
- Craniosynostosis syndrome
- Synonyms:
- Craniosynostosis
- Identifiers:
- MONDO: MONDO:0015469; MeSH: D003398; MedGen: C0010278; OMIM: PS123100; Human Phenotype Ontology: HP:0001363
Assertion and evidence details
Last Updated: May 12, 2024