ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.*1046CTTTA[1]

dbSNP: rs66920661
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400201 SCV000383282 likely benign Charlevoix-Saguenay spastic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305184 SCV000483450 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359875 SCV000483451 likely benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing

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