NM_003055.3(SLC18A3):c.88C>T (p.Arg30Trp) AND Congenital myasthenic syndrome 21
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 30, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001334113.9
Allele description [Variation Report for NM_003055.3(SLC18A3):c.88C>T (p.Arg30Trp)]
NM_003055.3(SLC18A3):c.88C>T (p.Arg30Trp)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024