NM_001330588.2(TPP2):c.202A>G (p.Ile68Val) AND Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002047539.5
Allele description [Variation Report for NM_001330588.2(TPP2):c.202A>G (p.Ile68Val)]
NM_001330588.2(TPP2):c.202A>G (p.Ile68Val)
Condition(s)
- Name:
- Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
- Identifiers:
- MedGen: CN231723
Assertion and evidence details
Last Updated: Mar 5, 2024