NM_203486.3(DLL3):c.367A>G (p.Ile123Val) AND Spondylocostal dysostosis 1, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001131088.4
Allele description [Variation Report for NM_203486.3(DLL3):c.367A>G (p.Ile123Val)]
NM_203486.3(DLL3):c.367A>G (p.Ile123Val)
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023