NM_001171613.2(PREPL):c.375A>G (p.Glu125=) AND Myasthenic syndrome, congenital, 22
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002185807.6
Allele description [Variation Report for NM_001171613.2(PREPL):c.375A>G (p.Glu125=)]
NM_001171613.2(PREPL):c.375A>G (p.Glu125=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024