ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile)

dbSNP: rs1566069517
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761546 SCV000891692 pathogenic Charlevoix-Saguenay spastic ataxia 2017-12-30 criteria provided, single submitter clinical testing

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