NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000422497.3
Allele description [Variation Report for NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)]
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Oct 13, 2024