ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1839G>A (p.Gln613=) (rs35840595)

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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 RCV000247615 SCV000312152 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361137 SCV000383373 likely benign Spastic ataxia Charlevoix-Saguenay type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000463635 SCV000562820 benign Spastic paraplegia 2017-12-22 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676370 SCV000802146 benign not provided 2017-08-22 no assertion criteria provided clinical testing

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