NM_139279.6(MCFD2):c.416C>T (p.Ala139Val) AND Factor 5 and Factor VIII, combined deficiency of, 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000330681.5
Allele description [Variation Report for NM_139279.6(MCFD2):c.416C>T (p.Ala139Val)]
NM_139279.6(MCFD2):c.416C>T (p.Ala139Val)
Condition(s)
Assertion and evidence details
Last Updated: Aug 25, 2024