NM_001430.5(EPAS1):c.1821C>T (p.Ile607=) AND Erythrocytosis, familial, 4
- 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:
- RCV001143054.4
Allele description [Variation Report for NM_001430.5(EPAS1):c.1821C>T (p.Ile607=)]
NM_001430.5(EPAS1):c.1821C>T (p.Ile607=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023