NM_022166.4(XYLT1):c.1742C>T (p.Pro581Leu) AND Desbuquois dysplasia 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 15, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000887717.8
Allele description [Variation Report for NM_022166.4(XYLT1):c.1742C>T (p.Pro581Leu)]
NM_022166.4(XYLT1):c.1742C>T (p.Pro581Leu)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024