ClinVar Miner

Submissions for variant NM_021956.5(GRIK2):c.2085+10G>A

gnomAD frequency: 0.24093  dbSNP: rs2243355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002221487 SCV002498842 benign not provided 2022-04-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117160 SCV000151324 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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