NM_198576.4(AGRN):c.4741G>A (p.Val1581Ile) AND Congenital myasthenic syndrome 8
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000818714.6
Allele description [Variation Report for NM_198576.4(AGRN):c.4741G>A (p.Val1581Ile)]
NM_198576.4(AGRN):c.4741G>A (p.Val1581Ile)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024