NC_000011.9:g.(?_117856768)_(118972385_?)dup AND Combined immunodeficiency due to CD3gamma deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 26, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001313154.1
Allele description
NC_000011.9:g.(?_117856768)_(118972385_?)dup
Condition(s)
- Name:
- Combined immunodeficiency due to CD3gamma deficiency
- Synonyms:
- CD3-GAMMA DEFICIENCY; SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE; Immunodeficiency 17; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0014276; MedGen: C3810107; OMIM: 615607
Assertion and evidence details
Last Updated: Sep 1, 2024