NM_031844.3(HNRNPU):c.803+2T>C AND Developmental and epileptic encephalopathy, 54
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 11, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002550961.9
Allele description [Variation Report for NM_031844.3(HNRNPU):c.803+2T>C]
NM_031844.3(HNRNPU):c.803+2T>C
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024