ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2817-8C>G

gnomAD frequency: 0.00002  dbSNP: rs775728920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027817 SCV001190434 uncertain significance MHC class II deficiency; Rheumatoid arthritis 2021-03-30 criteria provided, single submitter clinical testing CIITA NM_000246.3 exon13 c.2817-8C>G: This variant has not been reported in the literature but is present in 0.008% (3/34530) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-11004037-C-G). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may not affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001496304 SCV001701001 likely benign MHC class II deficiency 2023-12-09 criteria provided, single submitter clinical testing

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