NM_001171613.2(PREPL):c.1595A>G (p.Lys532Arg) AND Myasthenic syndrome, congenital, 22
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 2, 2025
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001083513.10
Allele description [Variation Report for NM_001171613.2(PREPL):c.1595A>G (p.Lys532Arg)]
NM_001171613.2(PREPL):c.1595A>G (p.Lys532Arg)
Condition(s)
Assertion and evidence details
Last Updated: Jun 22, 2025