NM_000824.5(GLRB):c.377A>T (p.Asp126Val) AND Hyperekplexia 2
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001149410.6
Allele description [Variation Report for NM_000824.5(GLRB):c.377A>T (p.Asp126Val)]
NM_000824.5(GLRB):c.377A>T (p.Asp126Val)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023