ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8574_8577del (p.His2859fs)

dbSNP: rs1555250991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667339 SCV000791772 likely pathogenic Charlevoix-Saguenay spastic ataxia 2017-05-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000667339 SCV004202292 likely pathogenic Charlevoix-Saguenay spastic ataxia 2022-09-09 criteria provided, single submitter clinical testing

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