NM_004273.5(CHST3):c.942C>T (p.Phe314=) AND Spondyloepiphyseal dysplasia with congenital joint dislocations
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001473463.7
Allele description [Variation Report for NM_004273.5(CHST3):c.942C>T (p.Phe314=)]
NM_004273.5(CHST3):c.942C>T (p.Phe314=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024