ClinVar Miner

Submissions for variant NM_001079.3(ZAP70):c.1082+8C>T (rs55933862)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542141 SCV000649526 benign not provided 2019-03-03 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768141 SCV000899096 uncertain significance Severe combined immunodeficiency, atypical; Autoimmune disease, multisystem, infantile-onset, 2 2018-09-28 criteria provided, single submitter clinical testing ZAP70 NM_001079.3 exon 9 c.1082+8C>T: This variant has not been reported in the literature but is present in 0.8% (201/23944) of African alleles, including 1 homozygote, in the Genome Aggregation Database ( This variant is present in ClinVar (Variation ID:471240). 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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