ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.*471C>T

gnomAD frequency: 0.02927  dbSNP: rs11843731
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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 RCV000326918 SCV000483456 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000381497 SCV000483457 likely benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705511 SCV005219337 likely benign not provided criteria provided, single submitter not provided

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