NM_199242.3(UNC13D):c.1596+15C>G AND Familial hemophagocytic lymphohistiocytosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000292491.5
Allele description [Variation Report for NM_199242.3(UNC13D):c.1596+15C>G]
NM_199242.3(UNC13D):c.1596+15C>G
Condition(s)
- Name:
- Familial hemophagocytic lymphohistiocytosis (FHL)
- Synonyms:
- Hemophagocytic lymphohistiocytosis; Familial erythrophagocytic lymphohistiocytosis; Familial histiocytic reticulosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015541; MedGen: C0272199; OMIM: PS267700
Assertion and evidence details
Last Updated: Mar 5, 2024