ClinVar Miner

Submissions for variant NM_004826.4(ECEL1):c.1797-10G>A

gnomAD frequency: 0.02730  dbSNP: rs76290356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116932 SCV000310694 benign not specified 2016-02-20 criteria provided, single submitter clinical testing
GeneDx RCV001668231 SCV001890753 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116932 SCV000151041 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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