ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) (rs281865120)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487627 SCV000574948 likely pathogenic not provided 2016-09-30 criteria provided, single submitter clinical testing
Counsyl RCV000032008 SCV000486129 pathogenic Spastic ataxia Charlevoix-Saguenay type 2016-04-05 criteria provided, single submitter clinical testing
GeneReviews RCV000032008 SCV000054717 pathologic Spastic ataxia Charlevoix-Saguenay type 2012-10-11 no assertion criteria provided curation Converted during submission to Pathogenic.

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