NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) AND LDB3-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003934799.1
Allele description [Variation Report for NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)]
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)
Condition(s)
- Name:
- LDB3-related disorder
- Synonyms:
- LDB3-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Jun 23, 2024