NM_001171613.2(PREPL):c.1653G>A (p.Thr551=) AND Myasthenic syndrome, congenital, 22
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003833384.2
Allele description [Variation Report for NM_001171613.2(PREPL):c.1653G>A (p.Thr551=)]
NM_001171613.2(PREPL):c.1653G>A (p.Thr551=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024