ClinVar Miner

Submissions for variant NC_000012.12:g.121626879_121626884delACCGCC

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173541 SCV000224663 benign not specified 2015-04-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000173541 SCV000539975 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Invitae RCV000652296 SCV000774164 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2018-11-20 criteria provided, single submitter clinical testing This variant, c.132_137delACCGCC, results in the deletion of 2 amino acids of the ORAI1 protein (p.Pro46_Pro47del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781920662, ExAC 0.01%). This variant has not been reported in the literature in individuals with ORAI1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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