NM_002187.3(IL12B):c.632T>C (p.Met211Thr) AND Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002589932.2
-
Short rib dysplasia
Short rib dysplasiaMedGen
-
C0432195[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024