NM_001171613.2(PREPL):c.521G>C (p.Arg174Pro) AND Myasthenic syndrome, congenital, 22
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000822296.7
Allele description [Variation Report for NM_001171613.2(PREPL):c.521G>C (p.Arg174Pro)]
NM_001171613.2(PREPL):c.521G>C (p.Arg174Pro)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024