ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.427+9G>A

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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 RCV000825157 SCV000966427 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing 442+9G>A in intron 8 of ELN: This variant is not expected to have clinical signi ficance because it is not located within the conserved splice consensus sequence . It has been identified in 2/4398 African American chromosomes from a broad pop ulation by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS) .

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