NM_005535.3(IL12RB1):c.1190-13C>T AND Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001123246.10
Allele description [Variation Report for NM_005535.3(IL12RB1):c.1190-13C>T]
NM_005535.3(IL12RB1):c.1190-13C>T
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024