NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) AND Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Germline classification:
- Benign (3 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000395252.14
Allele description [Variation Report for NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg)]
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024