NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001824914.8
Allele description [Variation Report for NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu)]
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Oct 13, 2024