ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.5572-4G>A (rs367584015)

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Total submissions: 1
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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 RCV000768056 SCV000898910 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2018-11-30 criteria provided, single submitter clinical testing PRKDC NM_006904.6 exon 42 c.5571-4G>A: This variant has not been reported in the literature and is present in 0.07% (25/33386) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/8-48776142-C-T). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, computational prediction tools do not suggest that it may alter 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.

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