NM_002187.3(IL12B):c.300G>A (p.Ser100=) AND Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 6, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000277010.13
Allele description [Variation Report for NM_002187.3(IL12B):c.300G>A (p.Ser100=)]
NM_002187.3(IL12B):c.300G>A (p.Ser100=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024