NM_198721.4(COL25A1):c.382C>T (p.Arg128Ter) AND Fibrosis of extraocular muscles, congenital, 5
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 30, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001780813.4
Allele description [Variation Report for NM_198721.4(COL25A1):c.382C>T (p.Arg128Ter)]
NM_198721.4(COL25A1):c.382C>T (p.Arg128Ter)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024