ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter)

dbSNP: rs1555249133
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674771 SCV000800165 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-05-23 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000674771 SCV004806234 uncertain significance Charlevoix-Saguenay spastic ataxia 2024-03-25 criteria provided, single submitter clinical testing

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