ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.644A>T (p.Asp215Val)

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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 RCV003136648 SCV003827617 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-11-01 criteria provided, single submitter clinical testing

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