NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) AND Epilepsy, familial adult myoclonic, 5
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000625909.13
Allele description [Variation Report for NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser)]
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024