ClinVar Miner

Submissions for variant NM_002294.2(LAMP2):c.-4G>A (rs200297370)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037403 SCV000061060 uncertain significance not specified 2012-01-30 criteria provided, single submitter clinical testing The -4G>A variant (LAMP2) has been identified in 1/5539 European American chromo somes by the NHLBI Exome Sequencing Project in a broad population (http://evs.gs .washington.edu/EVS). This variant occurs in the 5' untranslated region (UTR) an d variants in this region sometimes alter transcriptional regulation. However, p athogenic variants have not been reported in the 5' UTR of the LAMP2 gene. Addit ional information is needed to determine the clinical significance of the -4G>A variant.

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