ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10611A>G (p.Ala3537=) (rs137856939)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000710203 SCV000289945 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392205 SCV000383308 uncertain significance Spastic ataxia Charlevoix-Saguenay type 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710203 SCV000614921 benign not provided 2018-01-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000516579 SCV000707358 likely benign not specified 2017-04-20 criteria provided, single submitter clinical testing

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