NM_001244710.2(GFPT1):c.1101T>C (p.Tyr367=) AND Congenital myasthenic syndrome 12
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001397269.6
Allele description [Variation Report for NM_001244710.2(GFPT1):c.1101T>C (p.Tyr367=)]
NM_001244710.2(GFPT1):c.1101T>C (p.Tyr367=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024