NM_024301.5(FKRP):c.1336del (p.Leu446fs) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003755043.1
Assertion and evidence details
Last Updated: Mar 30, 2024