NM_144988.4(ALG14):c.210T>G (p.Ile70Met) AND Congenital myasthenic syndrome 15
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002594807.3
Allele description [Variation Report for NM_144988.4(ALG14):c.210T>G (p.Ile70Met)]
NM_144988.4(ALG14):c.210T>G (p.Ile70Met)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024