NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000599109.5
Allele description [Variation Report for NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)]
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Feb 28, 2024