ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3129A>G (p.Ser1043=) (rs148878361)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082217 SCV000289956 benign Spastic paraplegia 2020-12-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000372721 SCV000338243 likely benign not specified 2016-01-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334685 SCV000383364 uncertain significance Charlevoix-Saguenay spastic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710205 SCV000614949 benign not provided 2017-09-29 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000334685 SCV000744369 likely benign Charlevoix-Saguenay spastic ataxia 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000334685 SCV000733202 likely benign Charlevoix-Saguenay spastic ataxia no assertion criteria provided clinical testing
Natera, Inc. RCV000334685 SCV001464172 benign Charlevoix-Saguenay spastic ataxia 2020-05-02 no assertion criteria provided clinical testing
GeneDx RCV000710205 SCV001795691 likely benign not provided 2021-05-25 no assertion criteria provided clinical testing

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