ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.942+28T>C

gnomAD frequency: 0.04349  dbSNP: rs56149649
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000114210 SCV000314577 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001711274 SCV001946568 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711274 SCV005216209 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000114210 SCV000147763 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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