NM_001128159.3(VPS53):c.1312_1313+2del AND Pontoneocerebellar hypoplasia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001731871.1
Allele description [Variation Report for NM_001128159.3(VPS53):c.1312_1313+2del]
NM_001128159.3(VPS53):c.1312_1313+2del
Condition(s)
Assertion and evidence details
Last Updated: Mar 4, 2023