NM_025114.4(CEP290):c.5822del (p.Lys1941fs) AND Bardet-Biedl syndrome 14
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003460392.1
Allele description [Variation Report for NM_025114.4(CEP290):c.5822del (p.Lys1941fs)]
NM_025114.4(CEP290):c.5822del (p.Lys1941fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 30, 2023