ClinVar Miner

Submissions for variant NM_001961.4(EEF2):c.2190T>C (p.Tyr730=) (rs36527)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991947 SCV001143844 benign not provided 2019-07-15 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001657724 SCV001875941 benign Spinocerebellar ataxia type 26 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000991947 SCV001888147 benign not provided 2018-10-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116940 SCV000151049 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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