ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.*484T>C

gnomAD frequency: 0.36808  dbSNP: rs4770433
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000315525 SCV000383286 likely benign Charlevoix-Saguenay spastic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365800 SCV000483454 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271293 SCV000483455 likely benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705276 SCV005219336 likely benign not provided criteria provided, single submitter not provided

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