ClinVar Miner

Submissions for variant NM_031475.3(ESPN):c.*6G>A

gnomAD frequency: 0.00014  dbSNP: rs200806495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214566 SCV000270186 likely benign not specified 2015-05-27 criteria provided, single submitter clinical testing c.*6G>A in ESPN: This variant is not expected to have clinical significance it h as been identified in 0.46% (39/8510) of East Asian chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200806495).
GeneDx RCV001762459 SCV001989568 benign not provided 2021-09-23 criteria provided, single submitter clinical testing

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