NM_031307.4(PUS3):c.838C>T (p.Arg280Ter) AND PUS3-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003399034.4
Allele description [Variation Report for NM_031307.4(PUS3):c.838C>T (p.Arg280Ter)]
NM_031307.4(PUS3):c.838C>T (p.Arg280Ter)
Condition(s)
- Name:
- PUS3-related disorder
- Synonyms:
- PUS3-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Sep 1, 2024