NM_023067.4(FOXL2):c.855_871dup (p.His291fs) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- Apr 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000192040.5
Allele description [Variation Report for NM_023067.4(FOXL2):c.855_871dup (p.His291fs)]
NM_023067.4(FOXL2):c.855_871dup (p.His291fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024