NM_022166.4(XYLT1):c.1930C>A (p.Leu644Met) AND Desbuquois dysplasia 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001882991.2
Allele description [Variation Report for NM_022166.4(XYLT1):c.1930C>A (p.Leu644Met)]
NM_022166.4(XYLT1):c.1930C>A (p.Leu644Met)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024