NM_005677.4(COLQ):c.*421G>A AND Congenital myasthenic syndrome 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000308106.5
Allele description [Variation Report for NM_005677.4(COLQ):c.*421G>A]
NM_005677.4(COLQ):c.*421G>A
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023