ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) (rs12960)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118410 SCV000309386 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338689 SCV000399764 likely benign Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576393 SCV000677513 benign Spastic paraplegia 7 2017-04-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118410 SCV000152810 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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