ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.909A>G (p.Ala303=) (rs41315020)

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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 RCV000249605 SCV000312164 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344542 SCV000383387 likely benign Spastic ataxia Charlevoix-Saguenay type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000465285 SCV000562832 benign Spastic paraplegia 2017-07-27 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676375 SCV000802151 benign not provided 2016-02-22 no assertion criteria provided clinical testing

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