NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) AND Café-au-lait macules with pulmonary stenosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001128217.5
Allele description [Variation Report for NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)]
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024