NM_001369.3(DNAH5):c.6482_6483del (p.Val2161fs) AND Primary ciliary dyskinesia 3
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002310092.2
Allele description [Variation Report for NM_001369.3(DNAH5):c.6482_6483del (p.Val2161fs)]
NM_001369.3(DNAH5):c.6482_6483del (p.Val2161fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2022