NM_000130.5(F5):c.373+16T>C AND Congenital factor V deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003763510.1
Allele description [Variation Report for NM_000130.5(F5):c.373+16T>C]
NM_000130.5(F5):c.373+16T>C
Condition(s)
- Name:
- Congenital factor V deficiency
- Synonyms:
- LABILE FACTOR DEFICIENCY; OWREN PARAHEMOPHILIA; PARAHEMOPHILIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009210; MedGen: C0015499; OMIM: 227400
Assertion and evidence details
Last Updated: Feb 28, 2024