NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp) AND Primary ciliary dyskinesia 15
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Nov 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001124882.6
Allele description [Variation Report for NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp)]
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024