NM_000132.4(F8):c.1834C>T (p.Arg612Cys) AND Thrombophilia, X-linked, due to factor 8 defect
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002247320.1
Allele description [Variation Report for NM_000132.4(F8):c.1834C>T (p.Arg612Cys)]
NM_000132.4(F8):c.1834C>T (p.Arg612Cys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024