ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) (rs2292954)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118409 SCV000309381 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369973 SCV000399753 likely benign Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576853 SCV000677512 benign Spastic paraplegia 7 2017-04-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000118409 SCV000966341 benign not specified 2018-07-31 criteria provided, single submitter clinical testing Allele frequency 14% of total chromosomes by gnomad (http://gnomad.broadinstitut e.org).
Invitae RCV000860418 SCV001000465 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118409 SCV000152809 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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