NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) AND Bronchiectasis with or without elevated sweat chloride 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 15, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003474582.2
Allele description [Variation Report for NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)]
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024