NM_000334.4(SCN4A):c.4498G>A (p.Gly1500Ser) AND Congenital myasthenic syndrome 16
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002289117.2
Allele description [Variation Report for NM_000334.4(SCN4A):c.4498G>A (p.Gly1500Ser)]
NM_000334.4(SCN4A):c.4498G>A (p.Gly1500Ser)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024