NM_006949.4(STXBP2):c.503A>G (p.Gln168Arg) AND Familial hemophagocytic lymphohistiocytosis 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001059678.5
Allele description [Variation Report for NM_006949.4(STXBP2):c.503A>G (p.Gln168Arg)]
NM_006949.4(STXBP2):c.503A>G (p.Gln168Arg)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023