NM_005677.4(COLQ):c.674G>C (p.Gly225Ala) AND Congenital myasthenic syndrome 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002516614.1
Allele description [Variation Report for NM_005677.4(COLQ):c.674G>C (p.Gly225Ala)]
NM_005677.4(COLQ):c.674G>C (p.Gly225Ala)
Condition(s)
Assertion and evidence details
Last Updated: Apr 1, 2023