ClinVar Miner

Submissions for variant NM_021956.5(GRIK2):c.2312-9C>T

gnomAD frequency: 0.29456  dbSNP: rs2227281
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001682811 SCV001897277 benign not provided 2020-12-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117163 SCV000151327 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000117163 SCV001742823 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000117163 SCV001959067 benign not specified no assertion criteria provided clinical testing

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