NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe) AND Pontocerebellar hypoplasia type 1A
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001118139.6
Allele description [Variation Report for NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)]
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024