ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.243+1548T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003486235 SCV004237240 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-05-05 criteria provided, single submitter clinical testing

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