NM_198576.4(AGRN):c.2083G>C (p.Asp695His) AND Congenital myasthenic syndrome 8
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002770157.3
Allele description [Variation Report for NM_198576.4(AGRN):c.2083G>C (p.Asp695His)]
NM_198576.4(AGRN):c.2083G>C (p.Asp695His)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024