ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8344_8345delinsAT (p.Ala2782Ile)

dbSNP: rs386768924
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518355 SCV000614986 benign not provided 2018-12-10 criteria provided, single submitter clinical testing
Invitae RCV000518355 SCV001001168 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000518355 SCV001947420 benign not provided 2020-08-27 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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