NM_144988.4(ALG14):c.421G>A (p.Val141Met) AND Congenital myasthenic syndrome 15
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 16, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001197479.2
Allele description [Variation Report for NM_144988.4(ALG14):c.421G>A (p.Val141Met)]
NM_144988.4(ALG14):c.421G>A (p.Val141Met)
Condition(s)
Assertion and evidence details
Last Updated: Dec 17, 2022