ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) (rs797045938)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192981 SCV000248785 likely benign not specified 2017-12-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000192981 SCV000337946 benign not specified 2015-11-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000687700 SCV000614955 benign not provided 2018-09-21 criteria provided, single submitter clinical testing
Invitae RCV001081474 SCV000815285 benign Spastic paraplegia 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000687700 SCV001895309 likely benign not provided 2021-07-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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