NM_002043.5(GABRR2):c.757A>G (p.Ile253Val) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004190941.1
Allele description [Variation Report for NM_002043.5(GABRR2):c.757A>G (p.Ile253Val)]
NM_002043.5(GABRR2):c.757A>G (p.Ile253Val)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Oct 13, 2024