Single allele AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002247743.2
Allele description [Variation Report for Single allele]
Condition(s)
- Name:
- Splenomegaly
- Synonyms:
- Enlarged Spleen
- Identifiers:
- MedGen: C0038002; Human Phenotype Ontology: HP:0001744
- Name:
- Decreased circulating antibody concentration
- Synonyms:
- Decreased antibody level in blood
- Identifiers:
- MedGen: C4048270; Human Phenotype Ontology: HP:0004313
Assertion and evidence details
Last Updated: Sep 16, 2024