NM_004273.5(CHST3):c.*1130C>G AND Spondyloepiphyseal dysplasia with congenital joint dislocations
- 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:
- RCV000278403.5
Allele description [Variation Report for NM_004273.5(CHST3):c.*1130C>G]
NM_004273.5(CHST3):c.*1130C>G
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023