ClinVar Miner

Submissions for variant NM_021155.4(CD209):c.566A>T (p.Gln189Leu)

dbSNP: rs749759932
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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 RCV003224502 SCV003919778 uncertain significance Susceptibility to HIV infection; Mycobacterium tuberculosis, susceptibility to; Dengue virus, susceptibility to 2021-03-30 criteria provided, single submitter clinical testing CD209 NM_021155.3 exon 4 p.Gln189Leu (c.566A>T): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Breakthrough Genomics, Breakthrough Genomics RCV004693445 SCV005192540 uncertain significance not provided criteria provided, single submitter not provided

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