NM_001083116.3(PRF1):c.749C>T (p.Thr250Met) AND Familial hemophagocytic lymphohistiocytosis 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000685816.8
Allele description [Variation Report for NM_001083116.3(PRF1):c.749C>T (p.Thr250Met)]
NM_001083116.3(PRF1):c.749C>T (p.Thr250Met)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024