NM_001244710.2(GFPT1):c.1925A>T (p.Asp642Val) AND Congenital myasthenic syndrome 12
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 6, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000542143.1
Allele description [Variation Report for NM_001244710.2(GFPT1):c.1925A>T (p.Asp642Val)]
NM_001244710.2(GFPT1):c.1925A>T (p.Asp642Val)
Condition(s)
Assertion and evidence details
Last Updated: May 24, 2022