NM_003384.3(VRK1):c.1069-2A>G AND Pontocerebellar hypoplasia type 1A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002863646.3
Allele description [Variation Report for NM_003384.3(VRK1):c.1069-2A>G]
NM_003384.3(VRK1):c.1069-2A>G
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024