NM_024301.5(FKRP):c.718T>C (p.Phe240Leu) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001931236.6
Allele description [Variation Report for NM_024301.5(FKRP):c.718T>C (p.Phe240Leu)]
NM_024301.5(FKRP):c.718T>C (p.Phe240Leu)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024