NM_031483.7(ITCH):c.1200A>G (p.Pro400=) AND Syndromic multisystem autoimmune disease due to ITCH deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003503987.2
Allele description [Variation Report for NM_031483.7(ITCH):c.1200A>G (p.Pro400=)]
NM_031483.7(ITCH):c.1200A>G (p.Pro400=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024