ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) (rs200517685)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173860 SCV000225023 uncertain significance not provided 2015-04-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400126 SCV000383368 uncertain significance Spastic ataxia Charlevoix-Saguenay type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000529375 SCV000629463 likely benign Spastic paraplegia 2017-05-16 criteria provided, single submitter clinical testing

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