NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) AND Meckel syndrome, type 6
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001261607.3
Allele description [Variation Report for NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)]
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
Condition(s)
Assertion and evidence details
Last Updated: Aug 18, 2024