NM_000631.5(NCF4):c.118-8C>T AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002138278.6
Allele description [Variation Report for NM_000631.5(NCF4):c.118-8C>T]
NM_000631.5(NCF4):c.118-8C>T
Condition(s)
- Name:
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- Synonyms:
- CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF4 DEFICIENCY; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013507; MedGen: C3151409; Orphanet: 379; OMIM: 613960
Assertion and evidence details
Last Updated: Sep 29, 2024