NM_001244710.2(GFPT1):c.*5514G>T AND Congenital myasthenic syndrome 12
- 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:
- RCV000303844.5
Allele description [Variation Report for NM_001244710.2(GFPT1):c.*5514G>T]
NM_001244710.2(GFPT1):c.*5514G>T
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024