NM_182699.4(DDX53):c.1144C>A (p.Leu382Met) AND DDX53-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003893783.1
Allele description [Variation Report for NM_182699.4(DDX53):c.1144C>A (p.Leu382Met)]
NM_182699.4(DDX53):c.1144C>A (p.Leu382Met)
Condition(s)
- Name:
- DDX53-related disorder
- Synonyms:
- DDX53-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024