ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8133G>A (p.Ser2711=) (rs143386746)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173859 SCV000225022 uncertain significance not provided 2015-04-15 criteria provided, single submitter clinical testing
Invitae RCV001087614 SCV001016914 likely benign Spastic paraplegia 2020-08-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000173859 SCV001747690 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273201 SCV001455926 likely benign Charlevoix-Saguenay spastic ataxia 2020-04-29 no assertion criteria provided clinical testing

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