NM_001385012.1(NBEA):c.8542C>T (p.Arg2848Cys) AND Neurodevelopmental disorder with or without early-onset generalized epilepsy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 6, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003132835.3
Allele description [Variation Report for NM_001385012.1(NBEA):c.8542C>T (p.Arg2848Cys)]
NM_001385012.1(NBEA):c.8542C>T (p.Arg2848Cys)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024