ClinVar Miner

Submissions for variant NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) (rs2942)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992100 SCV001144098 benign not provided 2019-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117204 SCV000151368 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 RCV000601587 SCV000734482 benign Spinocerebellar ataxia, autosomal recessive 13 no assertion criteria provided clinical testing

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