NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln) AND Epilepsy, progressive myoclonic, 1B
- 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:
- RCV000531254.4
Allele description [Variation Report for NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln)]
NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln)
Condition(s)
Assertion and evidence details
Last Updated: Mar 26, 2023