ClinVar Miner

Submissions for variant NM_000231.2(SGCG):c.*10G>A (rs139369964)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000241662 SCV000527071 benign not specified 2016-07-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000284464 SCV000383260 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339387 SCV000383261 uncertain significance Severe autosomal recessive muscular dystrophy of childhood - North African type 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000241662 SCV000303086 benign not specified criteria provided, single submitter clinical testing

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