ClinVar Miner

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

gnomAD frequency: 0.86186  dbSNP: rs36527
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991947 SCV001143844 benign not provided 2019-07-15 criteria provided, single submitter clinical testing
Genome-Nilou 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000991947 SCV003341086 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000991947 SCV005309498 benign not provided criteria provided, single submitter not provided
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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