NM_004273.5(CHST3):c.877G>T (p.Asp293Tyr) AND Spondyloepiphyseal dysplasia with congenital joint dislocations
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002815609.2
Allele description [Variation Report for NM_004273.5(CHST3):c.877G>T (p.Asp293Tyr)]
NM_004273.5(CHST3):c.877G>T (p.Asp293Tyr)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024