ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) (rs186436335)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473308 SCV000552975 likely benign Spastic paraplegia 2020-11-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000594324 SCV000702728 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765121 SCV000896343 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-10-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000594324 SCV001713619 uncertain significance not provided 2019-07-28 criteria provided, single submitter clinical testing

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