NM_020708.5(SLC12A5):c.2790C>T (p.Ile930=) AND Developmental and epileptic encephalopathy, 34
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001468430.14
Allele description [Variation Report for NM_020708.5(SLC12A5):c.2790C>T (p.Ile930=)]
NM_020708.5(SLC12A5):c.2790C>T (p.Ile930=)
Condition(s)
Assertion and evidence details
Last Updated: Oct 26, 2024