ClinVar Miner

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

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Total submissions: 4
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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 2019-12-31 criteria provided, single submitter clinical testing

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