NM_030948.6(PHACTR1):c.1388C>T (p.Thr463Ile) AND Developmental and epileptic encephalopathy, 70
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003134815.3
Allele description [Variation Report for NM_030948.6(PHACTR1):c.1388C>T (p.Thr463Ile)]
NM_030948.6(PHACTR1):c.1388C>T (p.Thr463Ile)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024